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Reduced proportion of mucosal-associated invariant T cells

MedGen UID:
1782351
Concept ID:
C5539885
Finding
HPO: HP:4000039

Definition

A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced proportion of mucosal-associated invariant T cells

Conditions with this feature

Severe combined immunodeficiency due to CTPS1 deficiency
MedGen UID:
863054
Concept ID:
C4014617
Disease or Syndrome
IMD24 is an autosomal recessive immunodeficiency characterized by the impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpesviruses, including Epstein-Barr virus (EBV) and varicella zoster virus (VZV); they also suffer from recurrent encapsulated bacterial infections, a spectrum typical of a combined deficiency of adaptive immunity (CID) (summary by Martin et al., 2014).

Recent clinical studies

Etiology

Yin Y, Zeng A, Abuduwayiti A, Xu Z, Chen K, Wang C, Fang X, Wang J, Jiang G, Dai J
Cancer Med 2024 Mar;13(6):e7112. doi: 10.1002/cam4.7112. PMID: 38509769Free PMC Article

Clinical prediction guides

Zhu M, Xu Y, Li C, Lu Z, Bi K, Wang K, Guo P, Jiang H, Cao Y
Reprod Biol Endocrinol 2021 Nov 30;19(1):175. doi: 10.1186/s12958-021-00861-7. PMID: 34847942Free PMC Article

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