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Metadata
ID DOID:0060705
Name X-linked lymphoproliferative syndrome 1
Definition A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infect that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25.
https://www.ncbi.nlm.nih.gov/pubmed/6283885, https://www.ncbi.nlm.nih.gov/pubmed/9771704
Xrefs

GARD:7906

ICD10CM:D82.3

OMIM:308240

Subsets

DO_rare_slim

Synonyms

XLP1 [EXACT]

Parent Relationships

is_a lymphoproliferative syndrome

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