ArticleThe New England journal of medicine2016
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
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In one paragraph
Article in The New England journal of medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 131 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
131citing papers in PubMed, 2 pooled it
13.7field-weighted citation impact, top 1% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
131 citing papers in PubMed, 2 syntheses or guidelines pooled it, 244 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.Frontiers in immunology · 2021Pooled it
- Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.Journal of clinical immunology · 2021Trial
- Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage.The Journal of allergy and clinical immunology · 2019Trial
- IKAROS isoforms differentially control gene expression and differentiation of a B-cell acute lymphoblastic leukemia cell line.Nagoya journal of medical science · 2026Article
- Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.Blood advances · 2026Article
- Article
- Inborn errors of regulatory T-cell differentiation and function.The Journal of allergy and clinical immunology · 2025Review
- IKZF-associated inborn errors of immunity.Journal of human immunity · 2025Review
- Human genetic influences on early B cell development.Journal of human immunity · 2025Review
- Discovery of a germline IKZF1 deletion in a B-lymphoblastic leukemia post-induction bone marrow specimen: a case report and review of the literature.Journal of hematopathology · 2025Review
- One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.Blood · 2025Article
- IKAROS protein stability is regulated by its early N-terminal region and C-terminal dimerization domain.Clinical immunology (Orlando, Fla.) · 2025Article
- Review
- A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.Journal of clinical immunology · 2025Article
- Article
- Review
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.Human genetics · 2024Article
71 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 7 institutions in 4 countries.
H S Kuehn *Department of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
B Boisson *Department of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
C Cunningham-RundlesDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
J ReichenbachDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
A Stray-PedersenDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
E W GelfandDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
P MaffucciDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
K R PierceDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
J K AbbottDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
K V VoelkerdingDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
S T SouthDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
N H AugustineDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
J S BushDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
W K DolenDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
B B WrayDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
Y ItanDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
A CobatDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
H S SorteDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
S GanesanDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
S PraderDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
T B MartinsDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
M G LawrenceDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
J S OrangeDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
K R CalvoDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
J E NiemelaDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
J-L CasanovaDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
T A FleisherDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
H R HillDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
A KumánovicsDepartment of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
M E Conley *Department of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
S D Rosenzweig *Department of Laboratory Medicine, National Institutes of Health Clinical Center (H.S.K., K.R.C., J.E.N., T.A.F., S.D.R.), and the Primary Immunodeficiency Clinic (S.D.R.) and Biological Imaging Section, Research Technologies Branch (S.G.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University (B.B., Y.I., A.C., J.-L.C., M.E.C.), Howard Hughes Medical Institute (J.-L.C.), and the Department of Medicine and the Immunology Institute, Icahn School of Medicine at Mount Sinai (C.C.-R., P.M.) - all in New York; the Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 and Paris Descartes University, Imagine Institute, Paris (A.C., J.-L.C.); the Division of Immunology, University Children's Hospital Zurich (J.R., S.P.), Children's Research Center (J.R., S.P.), and University of Zurich (J.R.) - all in Zurich, Switzerland; the Center for Human Immunobiology, Texas Children's Hospital (A.S.-P., J.S.O.), and the Departments of Pediatrics (A.S.-P., J.S.O.) and Molecular and Human Genetics (A.S.-P.), Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston; the Norwegian Unit for National Newborn Screening (A.S.-P.) and the Department of Medical Genetics (H.S.S.), Oslo University Hospital, Oslo; University of Tennessee College of Medicine, Memphis (K.R.P.); the Division of Allergy and Immunology, Department of Pediatrics, National Jewish Health, Denver (E.W.G., J.K.A.); the Departments of Pathology (K.V.V., S.T.S., N.H.A., T.B.M., H.R.H., A.K.) and Pediatrics and Medicine (H.R.H.), University of Utah School of Medicine and ARUP (Associated Regional and University Pathologists) Institute for Clinical and Experimental Pathology, ARUP Laboratories (T.B.M.) - both in Salt Lake City; the Division of Allergy-Immunology and Pediatric Rheumatology, Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta (J.S.B., W.K.D., B.B.W.); and the Division of Asthma, Allergy, and Immunology, Department of Medicine, University of Virginia, Charlottesville (M.G.L.).
National Institute of Allergy and Infectious Diseases · USUniversité Paris Cité · FRInserm · FRBaylor College of Medicine · USNational Institutes of Health Clinical Center · USNewborn Screening Ontario · CARockefeller University · US
Funding
Regulation of IgA class switching in the intestinal mucosaP01AI061093 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2004 to 2021
$29.8MTransforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8MMOUNT SINAI MEDICAL SCIENTIST TRAINING PROGRAMT32GM007280 · NIGMS · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI BARON, MARGARET H · 1985 to 2021
$22.8MBaylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MResources to Assist Investigations in Primary Immunodeficiency Diseases (U24)U24AI086037 · NIAID · IMMUNE DEFICIENCY FOUNDATION · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2010 to 2019
$6.5MTARGETING PRIMARY IMMUNODEFICIENCY AMONG MINORITIESR18AI048693 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2000 to 2016
$6.2MGenetic Etiology of Agammaglobulinemia with Absent B CellsR01AI104857 · NIAID · ROCKEFELLER UNIVERSITY · PI CONLEY, MARY ELLEN · 2014 to 2015
$792kElucidating the Genetic Basis of Common Variable Immune DeficiencyR21AI094004 · NIAID · UNIVERSITY OF UTAH · PI HILL, HARRY R, VOELKERDING, KARL · 2011 to 2012
$411kExposporium determinants of Bacillus anthracisR21AI101093 · NIAID · UNIVERSITY OF MISSOURI-COLUMBIA · PI STEWART, GEORGE C. · 2012 to 2013
$390kMutation Analysis Of Selected Lymphoid Immune DisordersZIACL010304 · CLC · CLINICAL CENTER · PI ROSENZWEIG, SERGIO · 2009 to 2025
$0kThe Role of microRNA in Hematologic MalignanciesZIACL090025 · CLC · CLINICAL CENTER · PI CALVO, KATHERINE · 2010 to 2025
$0kHoward Hughes Medical InstituteIntramural NIH HHS Z99 CL999999NCATS NIH HHS TR-000043NCATS NIH HHS UL1 TR000043NHGRI NIH HHS U54 HG006542NHGRI NIH HHS U54HG006542NIAID NIH HHS AI-061093NIAID NIH HHS AI-086037NIAID NIH HHS AI-094004NIAID NIH HHS AI-101093NIAID NIH HHS AI-104857NIAID NIH HHS AI-48693NIAID NIH HHS P01 AI061093NIAID NIH HHS R01 AI104857NIAID NIH HHS R18 AI048693NIAID NIH HHS R21 AI094004NIAID NIH HHS R21 AI101093NIAID NIH HHS U24 AI086037NIGMS NIH HHS T32 GM007280NIGMS NIH HHS T32-GM007280
Abstract
backgroundCommon variable immunodeficiency (CVID) is characterized by late-onset hypogammaglobulinemia in the absence of predisposing factors. The genetic cause is unknown in the majority of cases, and less than 10% of patients have a family history of the disease. Most patients have normal numbers of B cells but lack plasma cells.
methodsWe used whole-exome sequencing and array-based comparative genomic hybridization to evaluate a subset of patients with CVID and low B-cell numbers. Mutant proteins were analyzed for DNA binding with the use of an electrophoretic mobility-shift assay (EMSA) and confocal microscopy. Flow cytometry was used to analyze peripheral-blood lymphocytes and bone marrow aspirates.
resultsSix different heterozygous mutations in IKZF1, the gene encoding the transcription factor IKAROS, were identified in 29 persons from six families. In two families, the mutation was a de novo event in the proband. All the mutations, four amino acid substitutions, an intragenic deletion, and a 4.7-Mb multigene deletion involved the DNA-binding domain of IKAROS. The proteins bearing missense mutations failed to bind target DNA sequences on EMSA and confocal microscopy; however, they did not inhibit the binding of wild-type IKAROS. Studies in family members showed progressive loss of B cells and serum immunoglobulins. Bone marrow aspirates in two patients had markedly decreased early B-cell precursors, but plasma cells were present. Acute lymphoblastic leukemia developed in 2 of the 29 patients.
conclusionsHeterozygous mutations in the transcription factor IKAROS caused an autosomal dominant form of CVID that is associated with a striking decrease in B-cell numbers. (Funded by the National Institutes of Health and others.).
Indexed as
B-LymphocytesMutationAdolescentAdultAntigens, CDBone MarrowBone Marrow ExaminationChildChild, PreschoolChromosomes, Human, Pair 7Common Variable ImmunodeficiencyExomeFemaleHeterozygoteHumansIkaros Transcription FactorAntigens, CDIkaros Transcription FactorIKZF1 protein, humanImmunoglobulin G
Identifiers
What OpenQuestion holds
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LicenceTDM
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.