ArticleAmerican journal of human genetics1999
Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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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.
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Who cites it
37 citing papers in PubMed, 125 citations in OpenAlex.
- Immunoglobulin a Deficiency in Coeliac Disease: A Scoping Review.United European gastroenterology journal · 2026Article
- The Intertwining Between Arthritis and Inborn Errors of Immunity.Journal of clinical medicine · 2026Review
- The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review.Journal of clinical medicine · 2024Review
- The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.Frontiers in immunology · 2024Article
- Selective IgA Deficiency and Allergy: A Fresh Look to an Old Story.Medicina (Kaunas, Lithuania) · 2022Review
- Type 2 autoimmune hepatitis: Genetic susceptibility.Frontiers in immunology · 2022Review
- The Role of HLA in the Association between IgA Deficiency and Celiac Disease.Disease markers · 2021Review
- Innate Mechanisms in Selective IgA Deficiency.Frontiers in immunology · 2021Review
- Primary Humoral Immune Deficiencies: Overlooked Mimickers of Chronic Immune-Mediated Gastrointestinal Diseases in Adults.International journal of molecular sciences · 2020Review
- The Epidemiology and Clinical Manifestations of Autoimmunity in Selective IgA Deficiency.Clinical reviews in allergy & immunology · 2020Review
- Article
- Pregnancy Outcome in Patients with Common Variable Immunodeficiency.Journal of clinical immunology · 2015Article
- IgA deficiency and risk of cancer: a population-based matched cohort study.Journal of clinical immunology · 2015Article
- Article
- Article
- Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.Nature genetics · 2010Article
- IgA deficiency and the MHC: assessment of relative risk and microheterogeneity within the HLA A1 B8, DR3 (8.1) haplotype.Journal of clinical immunology · 2010Article
- Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- Analysis of TACI mutations in CVID & RESPI patients who have inherited HLA B*44 or HLA*B8.BMC medical genetics · 2009Article
- Influence of genes, sex, age and environment on the onset of autoimmune hepatitis.World journal of gastroenterology · 2009Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Immunoglobulin A (IgA) deficiency (IgAD) is characterized by a defect of terminal lymphocyte differentiation, leading to a lack of IgA in serum and mucosal secretions. Familial clustering, variable population prevalence in different ethnic groups, and a predominant inheritance pattern suggest a strong genetic predisposition to IgAD. The genetic susceptibility to IgAD is shared with a less prevalent, but more profound, defect called "common variable immunodeficiency" (CVID). Here we show an increased allele sharing at 6p21 in affected members of 83 multiplex IgAD/CVID pedigrees and demonstrate, using transmission/diseqilibrium tests, family-based associations indicating the presence of a predisposing locus, designated "IGAD1," in the proximal part of the major histocompatibility complex (MHC). The recurrence risk of IgAD was found to depend on the sex of parents transmitting the defect: affected mothers were more likely to produce offspring with IgAD than were affected fathers. Carrier mothers but not carrier fathers transmitted IGAD1 alleles more frequently to the affected offspring than would be expected under random segregation. The differential parent-of-origin penetrance is proposed to reflect a maternal effect mediated by the production of anti-IgA antibodies tentatively linked to IGAD1. This is supported by higher frequency of anti-IgA-positive females transmitting the disorder to children, in comparison with female IgAD nontransmitters, and by linkage data in the former group. Such pathogenic mechanisms may be shared by other MHC-linked complex traits associated with the production of specific autoantibodies, parental effects, and a particular MHC haplotype.
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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.