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 | |
| Publication status | Published - 2013 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Research Areas and Centers
- Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)
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