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Article

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.

Journal of clinical immunology - 1 Jul 2015

Dziadzio Magdalena, Ammann Sandra, Canning Claire, Boyle Fiona, Hassan Amel, Cale Cathy, Elawad Mamoun, Fiil Berthe Katrine, Gyrd-Hansen Mads, Salzer Ulrich, Speckmann Carsten, Grimbacher Bodo

Abstract excerpt

PURPOSE: X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was originally described in male patients with X-linked lymphoproliferative syndrome type 2 (XLP2). Recent observations have highlighted a critical role of XIAP for the regulation of NOD2 signaling and are probably the molecular basis for increasingly recognized further immune dysregulatory symptoms of XIAP deficient patients,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25943627
DOI: 10.1007/s10875-015-0166-0

Genes

XIAP
NOD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.PMID 25943627Read ↗

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