lymphoproliferative syndrome 1 (DOID:0060707)
Alliance: disease page
Synonyms: LPFS1
Alt IDs: OMIM:613011, ICD10CM:D47.9
Definition: A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.