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Human Disease
lymphoproliferative syndrome 1
- Term ID
- DOID:0060707
- Synonyms
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- 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. (2)
- References
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- ICD10CM:D47.9
- MIM:613011
- Ontology
- Human Disease ( DOID:0060707 )
- is a type of
-
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