Salzer, U; Hagena, T; Webster, DB; Grimbacher, B; (2008) Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency. INT ARCH ALLERGY IMM , 147 (2) 147 - 151. 10.1159/000135702.
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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 gene. Methods: We therefore analyzed a cohort of 28 male CVID patients and 2 patients with an IgG subclass deficiency for the prevalence of mutations in BIRC4, encoding for XIAP by direct sequencing. Results: All patients showed a wild-type sequence of BIRC4/XIAP. Two SNPs, rs5956583 (dbSNP126) located in exon 6 (P -> Q) and rs28382740 (dbSNP126) in the 3' untranslated region were observed at the same frequencies as reported in public databases. Conclusions: We found no patient with a defect in the coding sequence of BIRC4/XIAP in our cohort of 30 hypo-gammaglobulinemic patients. We therefore estimate that XLP caused by XIAP deficiency may be a very rare differential diagnosis in male patients with CVID. Copyright (c) 2008 S. Karger AG, Basel.
|Title:||Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency|
|Keywords:||common variable immunodeficiency, X-linked, lymphoproliferative syndrome, XIAP, immunodeficiency, LINKED LYMPHOPROLIFERATIVE-DISEASE, MEMORY B-CELLS, ENCODING GENE, MUTATIONS, SAP, DEFICIENCY, HUMANS, SH2D1A, PRODUCT, SLAM|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Infection and Immunity (Division of) > Research Department of Immunology|
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