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Article

Rare variants at 16p11.2 are associated with common variable immunodeficiency.

The Journal of allergy and clinical immunology - 1 Jun 2015

Maggadottir S Melkorka, Li Jin, Glessner Joseph T, Li Yun Rose, Wei Zhi, Chang Xiao, Mentch Frank D, Thomas Kelly A, Kim Cecilia E, Zhao Yan, Hou Cuiping, Wang Fengxiang, Jørgensen Silje F, Perez Elena E, Sullivan Kathleen E, Orange Jordan S, Karlsen Tom H, Chapel Helen, Cunningham-Rundles Charlotte, Hakonarson Hakon

Abstract excerpt

BACKGROUND: Common 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. OBJECTIVE: We sought to seek novel associations of...

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Share to B-Lymphocytes
Share to CD11b Antigen

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 16

Share to Common Variable Immunodeficiency

Share to Enhancer Elements, Genetic

Share to Genetic Loci

Share to Immunologic Memory

Share to RNA-Binding Protein FUS

Source

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Identifiers

PMID: 25678086
DOI: 10.1016/j.jaci.2014.12.1939
PMCID: PMC4461447

Genes

ITGAM
FUS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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