Clinical Phenotype and Functional Analysis of a Rare XIAP/BIRC4 Mutation

Abstract

X-linked lymphoproliferative syndromes (XLP) are rare primary immunodeficiencies. Mutations within the XIAP/BIRC4 gene characterize XLP type 2 and cause XIAP deficiency. We present the case of a 5-year-old boy with a novel mutation of the XIAP/BIRC4 gene and describe the immunological phenotype for the first time. We characterized the distinct immunological phenotype and evaluated the family history accordingly.

Zusammenfassung

Die X-linked lymphoproliferativen Syndrome (XLP) beschreiben seltene primäre Immundefektsyndrome. Mutationen im XIAP/BIRC4-Gen sind dabei verantwortlich für das XLP Typ 2 und führen zur XIAP-Defizienz. Wir beschreiben erstmals den immunologischen Phänotyp eines 5-jährigen Jungen mit einer neuen XIAP/BIRC4-Mutation, deren familiäre Vererbung anhand einer Familientypi­sierung verfolgt werden konnte.

Key words

BIRC4 mutation - XIAP deficiency - hemophagocytic lymphohistiocytosis - X-linked lymphoproliferative syndrome - XLP

Schlüsselwörter

BIRC4-Mutation - XIAP-Defizienz - hämophagozytische Lymphohistiozytose - X-linked lymphoproliferatives Syndrom - XLP

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