Term Name: lymphoproliferative syndrome 1
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 )

Relationships
is a type of: autosomal recessive disease lymphoproliferative syndrome