Metadata | |
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ID | DOID:0060707 |
Name | lymphoproliferative syndrome 1 |
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. https://www.ncbi.nlm.nih.gov/pubmed/19425169, https://www.ncbi.nlm.nih.gov/pubmed/21109689 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
LPFS1 [EXACT] |
Parent Relationships |