ArticleNature2025
Monoallelic expression can govern penetrance of inborn errors of immunity.
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Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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55citing papers in PubMed
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Who cites it
55 citing papers in PubMed.
- How I Treat: Transplantation for primary immune regulatory diseases and inflammatory disorders.Journal of human immunity · 2026Article
- JAK-inhibitor treatment induces rapid yet incomplete immune reconstitution in STAT1 gain-of-function.Journal of human immunity · 2026Article
- Functional diversity of natural humanScience advances · 2026Article
- Adenosine deaminase type 2 deficiency: From rare to common.Journal of human immunity · 2026Review
- Climate Change and Food Allergy: Adaptations and Risks at the Intersection of Environment and Health.Comprehensive reviews in food science and food safety · 2026Review
- Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study.Molecular genetics and metabolism reports · 2026Article
- Article
- Monoallelic Gene Expression: Stochastic or Clonal? From Detection to Mechanisms and Clinical Significance.International journal of molecular sciences · 2026Review
- Autosomal allelic inactivation at loci with variable replication timing and dosage sensitivity.eLife · 2026Article
- Adult-onset STING-associated vasculopathy.Journal of human immunity · 2026Article
- Updated EBMT/ESID inborn errors working party guidelines for haematopoietic stem cell transplantation for inborn errors of immunity and metabolism.Bone marrow transplantation · 2026Review
- Transcription-based identification of uncharacterized genes in the human immune response.European journal of human genetics : EJHG · 2026Article
- Digenic and multigenic heterozygous FHL genotypes are common but clinically silent in the general population.Blood advances · 2026Article
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- From variants to answers: The evolution of genetic counseling in IEI.Journal of human immunity · 2026Review
- Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.The Journal of allergy and clinical immunology · 2026Article
- Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations.International journal of molecular sciences · 2026Article
- The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.The Journal of experimental medicine · 2026Article
- Expanding the Spectrum of Src-Family Kinase-Related Autoinflammatory Diseases: Monogenic Vasculitis Caused By Germline Pathogenic Variants in HCK and FGR.Journal of clinical immunology · 2026Article
- Clinical Factors Associated with Genetically Confirmed Inborn Errors of Immunity in Children Presenting with Immune Dysregulation.Clinical reviews in allergy & immunology · 2026Review
Corrections and comments
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Authors and funding
28 authors.
O'Jay StewartColumbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.ORCID 0000-0001-6071-760X
Conor Gruber *Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Haley E Randolph *Columbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.ORCID 0000-0003-2044-1180
Roosheel Patel *Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Meredith Ramba *Columbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.ORCID 0000-0002-4770-9389
Enrica CalzoniDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Lei Haley HuangDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Jay LevyIcahn School of Medicine at Mount Sinai, New York, NY, USA.
Sofija ButaColumbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Angelica LeeDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Christos SazeidesColumbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Zoe PrueColumbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
David P Hoytema van KonijnenburgDivision of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-5198-9718
Ivan K ChinnDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-5684-5457
Luis A PedrozaDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
James R LupskiDepartment of Pediatrics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-9907-9246
Erica G SchmittDivision of Rheumatology, Department of Pediatrics, St Louis Children's Hospital, Washington University School of Medicine, St Louis, MO, USA.
Megan A CooperDivision of Rheumatology, Department of Pediatrics, St Louis Children's Hospital, Washington University School of Medicine, St Louis, MO, USA.
Anne PuelLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.ORCID 0000-0003-2603-0323
Xiao PengDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Stéphanie Boisson-DupuisLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.
Jacinta BustamanteLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.
Satoshi OkadaDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.ORCID 0000-0002-4622-5657
Marta Martin-FernandezColumbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.ORCID 0000-0003-4671-6349
Jordan S OrangeDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.ORCID 0000-0001-7117-7725
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, INSERM UMR1163, Paris, France.
Joshua D MilnerDepartment of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.ORCID 0000-0002-3913-3869
Dusan BogunovicColumbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA. db3700@cumc.columbia.edu.ORCID 0000-0002-9277-3232
Funding
Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Anil K Rustgi · 1985 to 2026
$115.3MDeveloping, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MMOLECULAR BASIS OF ALLERGIC AND IMMUNOLOGIC DISEASET32AI007512 · NIAID · CHILDREN'S HOSPITAL BOSTON · PI Janet Chou, Peter A Nigrovic · 1996 to 2026
$13.1MPharmacology & ImmunoPathology (PIP) CoreU19AI162568 · NIAID · WEILL MEDICAL COLL OF CORNELL UNIV · PI CASANOVA, JEAN-LAURENT · 2021 to 2025
$13.0MGENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCYR01AI120989 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ORANGE, JORDAN SCOTT · 2016 to 2025
$7.7MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MGenome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Anne Puel · 2017 to 2026
$4.8MHuman ISG15 and USP18 Deficiencies Underlying Type I InterferonopathiesR01AI127372 · NIAID · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Dusan Bogunovic · 2017 to 2026
$4.7MTranslational Immunology Training ProgramT32AI078892 · NIAID · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Karen Leigh Edelblum, SERGIO A. LIRA · 2008 to 2026
$4.5MNext Generation Resolution of Antiviral Gene NetworksR01AI151029 · NIAID · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Dusan Bogunovic, Brad Rosenberg · 2020 to 2026
$4.2MNew York Regional Inborn Errors of Immunity Resource Initiative League (NY-ROYAL)R24AI167802 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Dusan Bogunovic, Joshua D. Milner · 2023 to 2026
$3.3MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5MNCATS NIH HHS UL1 TR001866NCI NIH HHS P30 CA013696NIAID NIH HHS F31 AI174808NIAID NIH HHS R01 AI095983NIAID NIH HHS R01 AI120989NIAID NIH HHS R01 AI127372NIAID NIH HHS R01 AI127564NIAID NIH HHS R01 AI148963NIAID NIH HHS R01 AI151029NIAID NIH HHS R24 AI167802NIAID NIH HHS T32 AI007512NIAID NIH HHS T32 AI078892NIAID NIH HHS U19 AI162568NICHD NIH HHS T32 HD075735NINDS NIH HHS R35 NS105078
Abstract
Inborn errors of immunity (IEIs) are genetic disorders that underlie susceptibility to infection, autoimmunity, autoinflammation, allergy and/or malignancy
Indexed as
AllelesGene Expression RegulationPenetranceAdultB-LymphocytesClone CellsDNA MethylationFemaleHeterozygoteHistonesHumansMaleMutationPedigreePhenotypeSTAT1 Transcription FactorHistonesSTAT1 Transcription Factor
Identifiers
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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.