Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation

S. Vieth; S. Ammann; K. Schwarz; C. Härtel; C. Schultz; K. Lehmberg; Melchior Lauten

doi:10.1055/s-0033-1355393

Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation

S. Vieth, S. Ammann, K. Schwarz, C. Härtel, C. Schultz, K. Lehmberg, Melchior Lauten^*

^*Corresponding author for this work

Clinic of Pediatric and Adolescent Medicine

2 Citations (Scopus)

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.

Original language	English
Journal	Klinische Padiatrie
Volume	225
Issue number	6
Pages (from-to)	343-346
Number of pages	4
ISSN	0300-8630
DOIs	https://doi.org/10.1055/s-0033-1355393
Publication status	Published - 2013

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Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

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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.",

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AU - Vieth, S.

AU - Ammann, S.

AU - Schwarz, K.

AU - Härtel, C.

AU - Schultz, C.

AU - Lehmberg, K.

AU - Lauten, Melchior

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

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U2 - 10.1055/s-0033-1355393

DO - 10.1055/s-0033-1355393

M3 - Journal articles

C2 - 24166087

AN - SCOPUS:84887849092

SN - 0300-8630

VL - 225

SP - 343

EP - 346

JO - Klinische Padiatrie

JF - Klinische Padiatrie

IS - 6

ER -

Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation

Abstract

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