X-linked lymphoproliferative syndrome 1 (DOID:0060705)
Alliance: disease page
Synonyms: XLP1
Alt IDs: OMIM:308240, ICD10CM:D82.3
Definition: A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection 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.