ReviewThe Journal of allergy and clinical immunology2022
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
Open access · greenAbstract readReview
In one paragraph
Review in The Journal of allergy and clinical immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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48citing papers in PubMed
9.9field-weighted citation impact, top 1% of its field
What it found
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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.
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Who cites it
48 citing papers in PubMed, 57 citations in OpenAlex.
- Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.The New England journal of medicine · 2023Trial
- Advancements in Diagnosis and Care for Immune Dysregulation and Inborn Errors of Immunity in Pediatric Rheumatology: Our 50-Year Journey.Arthritis care & research · 2026Review
- Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis.Journal of human immunity · 2026Review
- Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.International journal of molecular sciences · 2026Article
- Inborn Errors of Immunity Genotype: A Retrospective Study from the United Arab Emirates.Journal of clinical immunology · 2026Article
- Performance of expanded diagnostic criteria for APECED in independent cohorts and implications for earlier diagnosis.JCI insight · 2026Article
- Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort.Journal of clinical immunology · 2026Observational
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- Genome Sequencing Enhances Precision and Clinical Utility of Pharmacogenetic Data Compared to Arrays.Journal of clinical pharmacology · 2026Article
- Emerging trends and research hot spots in inborn error of immunity: A bibliometric perspective.The journal of allergy and clinical immunology. Global · 2026Article
- From variants to answers: The evolution of genetic counseling in IEI.Journal of human immunity · 2026Review
- STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings.European journal of medical genetics · 2026Article
- Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.The Journal of allergy and clinical immunology · 2026Article
- Clinical relevance of mosaic variants detected by exome sequencing.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
- Current and emerging molecular diagnostic approaches in the detection of human parasites.Parasitology research · 2026Review
- Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses.Frontiers in genetics · 2026Article
- A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature.Molecular genetics & genomic medicine · 2026Review
- Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation Survival.Transplantation · 2026Article
- Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.NPJ genomic medicine · 2025Article
Corrections and comments
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Authors and funding
102 authors at 14 institutions in 2 countries.
Morgan N SimilukCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md. Electronic address: morgan.similuk@nih.gov.
Jia YanCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Rajarshi GhoshCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Andrew J OlerBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Luis M FrancoFunctional Immunogenomics Unit, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Md.
Michael R SetzerCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Michael KamenCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Colleen JodarskiCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Thomas DiMaggioFungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Joie DavisImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Rachel GoreCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Leila JamalGenetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Md; Department of Bioethics, National Institutes of Health Clinical Center, Bethesda, Md; Johns Hopkins/NIH Genetic Counseling Training Program, Bethesda, Md.
Adrienne BorgesCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Nicole GentileCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Julie NiemelaCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Chenery LoweHealth, Behavior, and Society, Johns Hopkins Bloomberg School of Public Health, Baltimore, Md.
Kathleen JevtichSchool of Medicine, Uniformed Services University of Health Sciences, Bethesda, Md.
Yunting YuCollege of Medicine, Penn State, University Park, Pa.
Haley HullfishSchool of Medicine, University of Miami, Miami, Fla.
Amy P HsuImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Celine HongCenter for Precision Health Research, National Human Genome Research Institute, Bethesda, Md.
Patricia LittelGenetic Immunotherapy Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Bryce A SeifertCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Joshua MilnerInstitute of Genomic Medicine, Columbia University, New York, NY.
Jennifer J JohnstonCenter for Precision Health Research, National Human Genome Research Institute, Bethesda, Md.
Xi ChengBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Zhiwen LiBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Daniel VeltriBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Ke HuangBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Krishnaveni KaladiBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Jason BarnettBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Lingwen ZhangBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Nikita VlasenkoBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Yongjie FanBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Eric KarlinsBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Satishkumar Ranganathan GanakammalBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Robert GilmoreBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Emily TranBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Alvin YunOperations and Engineering Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Joseph MackeyOperations and Engineering Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Svetlana YazhukOperations and Engineering Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Justin LackNIAID Collaborative Bioinformatics Resource, Leidos Biomedical Research, Inc, Frederick, Md.
Vasudev KuramNIAID Collaborative Bioinformatics Resource, Leidos Biomedical Research, Inc, Frederick, Md.
Wenjia CaoNIAID Collaborative Bioinformatics Resource, Leidos Biomedical Research, Inc, Frederick, Md.
Susan HuseNIAID Collaborative Bioinformatics Resource, Leidos Biomedical Research, Inc, Frederick, Md.
Karen FrankLaboratory Medicine, National Institutes of Health Clinical Center, Bethesda, Md.
Gary FahleMicrobiology Service, Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, Md.
Sergio RosenzweigImmunology Service, Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, Md.
Yan SuImmunology Service, Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, Md.
SuJin HwangImmunology Service, Laboratory Medicine, National Institutes of Health Clinical Center, Bethesda, Md.
Weimin BiDepartment of Molecular and Human Genetics, Baylor Genetics, Houston, Tex.
John BennettClinical Mycology, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Ian A MylesEpithelial Therapeutics Unit, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Suk See De RavinLaboratory of Host Defenses, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Ivan FussMucosal Immunity Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Warren StroberMucosal Immunity Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Bibiana BielekovaNeuroimmunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Adriana Almeida de JesusTranslational Autoinflammatory Disease Studies Unit, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Raphaela Goldbach-ManskyTranslational Autoinflammatory Disease Studies Unit, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Peter WilliamsonTranslational Mycology Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Kelly KumarCardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, Bethesda, Md.
Caeden DempsyFood Allergy Research Unit, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Pamela Frischmeyer-GuerrerioFood Allergy Research Unit, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Robin FischMast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Hyejeong BolanMast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Dean D MetcalfeMast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Hirsh KomarowMast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Melody CarterMast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Kirk M DrueyLung and Vascular Inflammation Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Irini SeretiHIV Pathogenesis Section Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Lesia DropulicMedical Virology Section, Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Amy D KlionHuman Eosinophil Section, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Paneez KhouryHuman Eosinophil Section, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Elise M O' ConnellHelminth Immunology Section, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Nicole C Holland-ThomasHuman Eosinophil Section, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Thomas BrownHuman Eosinophil Section, Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
David H McDermottMolecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Philip M MurphyMolecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Vanessa BundyDivision of Allergy and Immunology, Children's National Health System, Washington, DC.
Michael D KellerDivision of Allergy and Immunology, Children's National Health System, Washington, DC.
Christine PengDivision of Allergy and Immunology, Children's National Health System, Washington, DC.
Helen KimDivision of Allergy and Immunology, Children's National Health System, Washington, DC.
Stephanie NormanDivision of Allergy and Immunology, Children's National Health System, Washington, DC.
Ottavia M DelmonteImmune Deficiency Genetics Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Elizabeth KangGenetic Immunotherapy Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Helen C SuHuman Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Harry MalechGenetic Immunotherapy Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Alexandra FreemanImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Christa ZerbeImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Gulbu UzelImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Jenna R E BergersonPrimary Immune Deficiency Clinic (Autoimmune Lymphoproliferative Syndrome Clinic), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
V Koneti RaoPrimary Immune Deficiency Clinic (Autoimmune Lymphoproliferative Syndrome Clinic), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Kenneth N OlivierCardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, Bethesda, Md.
Jonathan J LyonsTranslational Allergic Immunopathology Unit, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Andrea LiscoHIV Pathogenesis Section Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Jeffrey I CohenMedical Virology Section, Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Michail S LionakisFungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Leslie G BieseckerCenter for Precision Health Research, National Human Genome Research Institute, Bethesda, Md.
Sandhya XirasagarBioinformatics and Computational Biosciences Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Luigi D NotarangeloImmune Deficiency Genetics Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Steven M HollandImmunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
Magdalena A WalkiewiczCentralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, Md.
National Institute of Allergy and Infectious Diseases · USChildren's National · USNational Institutes of Health Clinical Center · USLeidos (United States) · USNational Human Genome Research Institute · USNational Heart Lung and Blood Institute · USBaylor Genetics · USColumbia University · USJohns Hopkins University · USNational Institute of Arthritis and Musculoskeletal and Skin Diseases · USNational Institutes of Health · USPennsylvania State University · USUniformed Services University of the Health Sciences · USUniversity of Miami · US
Funding
Infectious Diseases Research Technologies Core - BethesdaZICAI001051 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI CHERRY, JAMES · 2009 to 2025
$226.1MMolecular Analysis Of Leukocyte Activation By ChemoattractantsZIAAI000615 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI MURPHY, PHILIP · 2009 to 2025
$44.8MImmunopathogenic Mechanisms of Human Immunodeficiency Virus (HIV) DiseaseZIAAI001121 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SERETI, IRINI · 2010 to 2025
$27.2MCentral Sequencing InitiativeZICAI001244 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2019 to 2025
$24.0MImmunopathogenesis of Fungal InfectionsZIAAI001175 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI LIONAKIS, MICHAIL · 2012 to 2025
$23.9MEosinophils and Eosinophil Activation in the Pathogenesis of Human DiseaseZIAAI001130 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI KLION, AMY · 2010 to 2025
$22.5MPathogenesis, and Outcome of Autoinflammatory Diseases, NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Stills-like Diseases, and other Undifferentiated Autoinflammatory DiseasesZIAAI001220 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI GOLDBACH-MANSKY, RAPHAELA · 2017 to 2025
$22.3MTransgenic Animal Models Of Human Immune DefectsZIAAI000646 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.2MDefining New Human Immunodeficiency and Immunodysregulation DisordersZIAAI001059 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SU, HELEN CHUN-HUI · 2009 to 2025
$20.5MGenomic Ascertainment - Molecular and Genetic AspectsZIAHG200359 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2009 to 2025
$19.7MThe Pathogenesis, Diagnosis, And Treatment Of Systemic Mast Cell DisordersZIAAI000249 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI KOMAROW, HIRSH D · 2009 to 2025
$16.5MGenomic Ascertainment - Clinical and Behavioral AspectsZIAHG200387 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2013 to 2025
$15.5MIntramural NIH HHS ZIA AI001222
Abstract
backgroundProspective genetic evaluation of patients at this referral research hospital presents clinical research challenges.
objectivesThis study sought not only a single-gene explanation for participants' immune-related presentations, but viewed each participant holistically, with the potential to have multiple genetic contributions to their immune phenotype and other heritable comorbidities relevant to their presentation and health.
methodsThis study developed a program integrating exome sequencing, chromosomal microarray, phenotyping, results return with genetic counseling, and reanalysis in 1505 individuals from 1000 families with suspected or known inborn errors of immunity.
resultsProbands were 50.8% female, 71.5% were ≥18 years, and had diverse immune presentations. Overall, 327 of 1000 probands (32.7%) received 361 molecular diagnoses. These included 17 probands with diagnostic copy number variants, 32 probands with secondary findings, and 31 probands with multiple molecular diagnoses. Reanalysis added 22 molecular diagnoses, predominantly due to new disease-gene associations (9 of 22, 40.9%). One-quarter of the molecular diagnoses (92 of 361) did not involve immune-associated genes. Molecular diagnosis was correlated with younger age, male sex, and a higher number of organ systems involved. This program also facilitated the discovery of new gene-disease associations such as SASH3-related immunodeficiency. A review of treatment options and ClinGen actionability curations suggest that at least 251 of 361 of these molecular diagnoses (69.5%) could translate into ≥1 management option.
conclusionsThis program contributes to our understanding of the diagnostic and clinical utility whole exome analysis on a large scale.
Indexed as
ExomeGenetic TestingFemaleGenomicsHumansMalePhenotypeProspective Studieschromosomal microarray analysiscopy number variationexome sequencinggeneticsGenomicsimmune systemimmunologyinborn errors of immunityMendelian disordersecondary findings
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