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Article

Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency.

International archives of allergy and immunology - 1 Jan 2008

Salzer Ulrich, Hagena Tina, Webster David B, Grimbacher Bodo

Abstract excerpt

BACKGROUND: Common variable immunodeficiency (CVID) is the most common primary antibody deficiency syndrome in humans, but it remains a diagnosis of exclusion in most cases. Several genetically defined primary immunodeficiencies mimic CVID. Among them is the X-linked lymphoproliferative syndrome (XLP) which was shown to be caused by either mutations in the gene SH2D1a/SAP or, more recently, in the BIRC4/XIAP...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Immunoglobulin G

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Share to Polymorphism, Single Nucleotide

Share to Sequence Analysis, DNA

Share to X-Linked Inhibitor of Apoptosis Protein

Source

Identifiers

PMID: 18520160
DOI: 10.1159/000135702

Genes

XIAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency.PMID 18520160Read ↗

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Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management.Semantic proximity Read ↗

Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG.Semantic proximity Read ↗

Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.Semantic proximity Read ↗

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Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.Semantic proximity Read ↗

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease.Semantic proximity Read ↗

Distinct clinical characteristics and outcome caused by a novel deletion mutation in XIAP/BIRC4 gene: a case reportSemantic proximity Read ↗

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