Metadata | |
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ID | DOID:0060706 |
Name | X-linked lymphoproliferative syndrome 2 |
Definition | A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. https://www.ncbi.nlm.nih.gov/pubmed/17080092 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
XIAP deficiency [EXACT] XLP2 [EXACT] |
Parent Relationships |