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Metadata
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

GARD:10916

ICD10CM:D82.3

MIM:300635

Subsets

DO_rare_slim

Synonyms

XIAP deficiency [EXACT]

XLP2 [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a lymphoproliferative syndrome

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