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Defective T-Cell Receptor Signaling

MedGen UID:
1784812
Concept ID:
C5446918
Finding
Synonym: Defective TCR signaling

Definition

An indication that T-cell receptor (TCR)-dependent signaling pathways in a immunologic sample are compromised. TCR signaling defects lead to impaired development of T-lymphocytes and are usually caused by deletion or loss of function mutations affecting one or more proteins involved in TCR-dependent signaling pathways, including the subunits of the TCR complex. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDefective T-Cell Receptor Signaling

Professional guidelines

PubMed

Wallace PM, Johnson JS, MacMaster JF, Kennedy KA, Gladstone P, Linsley PS
Transplantation 1994 Sep 15;58(5):602-10. doi: 10.1097/00007890-199409150-00013. PMID: 8091487

Recent clinical studies

Diagnosis

Marks AR
Am J Physiol 1997 Feb;272(2 Pt 2):H597-605. doi: 10.1152/ajpheart.1997.272.2.H597. PMID: 9124414

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    Practice guidelines

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