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
2 Citations (Scopus)


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 languageEnglish
JournalKlinische Padiatrie
Issue number6
Pages (from-to)343-346
Number of pages4
Publication statusPublished - 2013

Research Areas and Centers

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


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