Term Name: | X-linked lymphoproliferative syndrome 1 |
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Synonyms: | XLP1 |
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. |
Ontology: | Human Disease [DOID:0060705] ( DOID:0060705 ) |