Format

Send to:

Choose Destination

Lymphoproliferative Syndrome 1

MedGen UID:
924384
•Concept ID:
C4283841
•
Disease or Syndrome
Synonym: ITK Deficiency

Definition

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

PubMed

Increased infections associated with the use of OKT3 for treatment of steroid-resistant rejection in renal transplantation.
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

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...