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Decreased CD69 upregulation upon TCR activation

MedGen UID:
1625084
•Concept ID:
C4531236
•
Cell or Molecular Dysfunction
HPO: HP:0031268

Definition

Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased CD69 upregulation upon TCR activation

Conditions with this feature

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
MedGen UID:
477076
•Concept ID:
C3275445
•
Disease or Syndrome
XMEN is an X-linked recessive immunodeficiency characterized by CD4 (186940) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation (Li et al., 2011). Affected individuals have chronic Epstein-Barr virus (EBV) infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders. Magnesium supplementation may be therapeutic (summary by Li et al., 2014).
See: Condition Record
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

Recent clinical studies

Diagnosis

Short-Term Dietary Restriction Potentiates an Anti-Inflammatory Circulating Mucosal-Associated Invariant T-Cell Response.
Fazzone B, Anderson EM, Rozowsky JM, Yu X, O'Malley KA, Robinson S, Scali ST, Cai G, Berceli SA
Nutrients 2024 Apr 22;16(8) doi: 10.3390/nu16081245. PMID: 38674935Free PMC Article

Therapy

Non FcR-binding murine antihuman CD3 monoclonal antibody is capable of productive TCR signalling and induces proliferation in the presence of costimulation.
Meijer RT, Yong SL, ten Berge IJ, van Lier RA, Schellekens PT
Clin Exp Immunol 2001 Mar;123(3):511-9. doi: 10.1046/j.1365-2249.2001.01464.x. PMID: 11298141Free PMC Article

Prognosis

Systematic multi-omics reveals the overactivation of T cell receptor signaling in immune system following bisphenol A exposure.
Park YJ, Rahman MS, Pang WK, Ryu DY, Jung MJ, Amjad S, Kim JM, Pang MG
Environ Pollut 2022 Sep 1;308:119590. Epub 2022 Jun 22 doi: 10.1016/j.envpol.2022.119590. PMID: 35752395
Exogenous immunoglobulin downregulates T-cell receptor signaling and cytokine production.
Tawfik DS, Cowan KR, Walsh AM, Hamilton WS, Goldman FD
Pediatr Allergy Immunol 2012 Feb;23(1):88-95. Epub 2011 Jan 25 doi: 10.1111/j.1399-3038.2010.01129.x. PMID: 21265884

Clinical prediction guides

A Novel Homozygous RHOH Variant Associated with T Cell Dysfunction and Recurrent Opportunistic Infections.
Zhou J, Qian M, Jiang N, Wu J, Feng X, Yu M, Min Q, Xu H, Yang Y, Yang Q, Zhou F, Shao L, Zhu H, Yang Y, Wang JY, Ruan Q, Zhang W
J Clin Immunol 2024 May 22;44(6):131. doi: 10.1007/s10875-024-01735-4. PMID: 38775840
Systematic multi-omics reveals the overactivation of T cell receptor signaling in immune system following bisphenol A exposure.
Park YJ, Rahman MS, Pang WK, Ryu DY, Jung MJ, Amjad S, Kim JM, Pang MG
Environ Pollut 2022 Sep 1;308:119590. Epub 2022 Jun 22 doi: 10.1016/j.envpol.2022.119590. PMID: 35752395
CD4+ T cells from patients with primary sclerosing cholangitis exhibit reduced apoptosis and down-regulation of proapoptotic Bim in peripheral blood.
Schoknecht T, Schwinge D, Stein S, Weiler-Normann C, Sebode M, Mucha S, Otto B, Ellinghaus E, Stahl F, Franke A, Lohse AW, Herkel J, Schramm C
J Leukoc Biol 2017 Feb;101(2):589-597. Epub 2016 Sep 14 doi: 10.1189/jlb.5A1015-469R. PMID: 27630216
West Nile virus-infected human dendritic cells fail to fully activate invariant natural killer T cells.
Kovats S, Turner S, Simmons A, Powe T, Chakravarty E, Alberola-Ila J
Clin Exp Immunol 2016 Nov;186(2):214-226. Epub 2016 Sep 22 doi: 10.1111/cei.12850. PMID: 27513522Free PMC Article
Non FcR-binding murine antihuman CD3 monoclonal antibody is capable of productive TCR signalling and induces proliferation in the presence of costimulation.
Meijer RT, Yong SL, ten Berge IJ, van Lier RA, Schellekens PT
Clin Exp Immunol 2001 Mar;123(3):511-9. doi: 10.1046/j.1365-2249.2001.01464.x. PMID: 11298141Free PMC Article

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