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^*

^*Korrespondierende/r Autor/-in für diese Arbeit

Klinik für Kinder- und Jugendmedizin

7 Zitate (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.

Originalsprache	Englisch
Zeitschrift	Klinische Padiatrie
Jahrgang	225
Ausgabenummer	6
Seiten (von - bis)	343-346
Seitenumfang	4
ISSN	0300-8630
DOIs	https://doi.org/10.1055/s-0033-1355393
Publikationsstatus	Veröffentlicht - 2013

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Forschungsschwerpunkt: Gehirn, Hormone, Verhalten - Center for Brain, Behavior and Metabolism (CBBM)

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10.1055/s-0033-1355393

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title = "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.",

author = "S. Vieth and S. Ammann and K. Schwarz and C. H{\"a}rtel and C. Schultz and K. Lehmberg and Melchior Lauten",

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pages = "343--346",

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T1 - Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation

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.

UR - https://www.scopus.com/pages/publications/84887849092

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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