Human genes for lymphoproliferative syndrome 1
Lymphoproliferative syndrome 1 [DOID:0060707]
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.
Synonyms: lymphoproliferative syndrome 1, DOID:0060707, LPFS1