Version: 8.0.0
Date: Tue Jan 28 2025
lymphoproliferative syndrome 1
DOID:0060707
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • LPFS1
Cross References
Parent Terms
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