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Lymphoproliferative Syndrome 1

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: ITK Deficiency


An autosomal recessive immunodeficiency caused but mutation(s) in the ITK gene, encoding tyrosine-protein kinase ITK/TSK. It is characterized by the early childhood onset of Epstein-Barr virus (EBV)-associated immune dysregulation leading to lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, and/or hypogammaglobulinemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLymphoproliferative Syndrome 1

Professional guidelines


Oh CS, Stratta RJ, Fox BC, Sollinger HW, Belzer FO, Maki DG
Transplantation 1988 Jan;45(1):68-73. doi: 10.1097/00007890-198801000-00016. PMID: 3276066

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