Term Name: | lymphoproliferative syndrome 1 |
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Synonyms: | LPFS1 |
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. |
Ontology: | Human Disease [DOID:0060707] ( DOID:0060707 ) |