ArticleThe Journal of allergy and clinical immunology2015
Rare variants at 16p11.2 are associated with common variable immunodeficiency.
Article in The Journal of allergy and clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Leveraging pleiotropy identifies common-variant associations with selective IgA deficiency.Clinical immunology (Orlando, Fla.) · 2024Pooled it
- The Immune Status of Patients with 16p11.2 Deletion Syndrome.Journal of clinical immunology · 2023Article
- Transient hypogammaglobulinemia of infancy may be associated with reduced switched memory B cells and del (16) (p11.2p12).Clinical case reports · 2021Article
- Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.Cellular & molecular immunology · 2021Review
- Recent advances in elucidating the genetics of common variable immunodeficiency.Genes & diseases · 2020Review
- RP-HPLC-ESI-IT Mass Spectrometry Reveals Significant Variations of the Human Salivary Protein Profile Associated with Predominantly Antibody Deficiencies.Journal of clinical immunology · 2020Article
- Persistent Activation of Innate Immunity in Patients with Primary Antibody Deficiencies.Journal of immunology research · 2020Article
- Systems Biology Analysis of the Effect and Mechanism of Qi-Jing-Sheng-Bai Granule on Leucopenia in Mice.Frontiers in pharmacology · 2019Article
- Identification of Novel Genetic Variants in CVID Patients With Autoimmunity, Autoinflammation, or Malignancy.Frontiers in immunology · 2019Article
- The role of genomics in common variable immunodeficiency disorders.Clinical and experimental immunology · 2017Review
- Advances in clinical immunology in 2015.The Journal of allergy and clinical immunology · 2016Review
- Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation.Mucosal immunology · 2016Article
- Primary immunodeficiency associated with chromosomal aberration - an ESID survey.Orphanet journal of rare diseases · 2016Article
- Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.The Journal of allergy and clinical immunology · 2016Article
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 3 countries.
Funding
Abstract
backgroundCommon variable immunodeficiency (CVID) is characterized clinically by inadequate quantity and quality of serum immunoglobulins with increased susceptibility to infections, resulting in significant morbidity and mortality. Only a few genes have been uncovered, and the genetic background of CVID remains elusive to date for the majority of patients.
objectiveWe sought to seek novel associations of genes and genetic variants with CVID.
methodsWe performed association analyses in a discovery cohort of 164 patients with CVID and 19,542 healthy control subjects genotyped on the Immuno BeadChip from Illumina platform; replication of findings was examined in an independent cohort of 135 patients with CVID and 2,066 healthy control subjects, followed by meta-analysis.
resultsWe identified 11 single nucleotide polymorphisms (SNPs) at the 16p11.2 locus associated with CVID at a genome-wide significant level in the discovery cohort. The most significant SNP, rs929867 (P = 6.21 × 10(-9)), is in the gene fused-in-sarcoma (FUS), with 4 other SNPs mapping to integrin CD11b (ITGAM). Results were confirmed in our replication cohort. Conditional association analysis suggests a single association signal at the 16p11.2 locus. A strong trend of association was also seen for 38 SNPs (P < 5 × 10(-5)) in the MHC region, supporting that this is a genuine CVID locus. Interestingly, we found that 80% of patients with the rare ITGAM variants have reduced switched memory B-cell counts.
conclusionWe report a novel association of CVID with rare variants at the FUS/ITGAM (CD11b) locus on 16p11.2. The association signal is enriched for promoter/enhancer markers in the ITGAM gene. ITGAM encodes the integrin CD11b, a part of complement receptor 3, a novel candidate gene implicated here for the first time in the pathogenesis of CVID.
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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.