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Reduced antigen-specific T cell proliferation

MedGen UID:
Concept ID:
Synonyms: Antigen-specific T cell proliferation defect; Impaired activated T cell proliferation; Impaired Ag-specific T cell proliferation; Impaired cellular adaptive immune response
HPO: HP:0031402


Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced antigen-specific T cell proliferation

Conditions with this feature

Severe combined immunodeficiency due to CARD11 deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Immunodeficiency-11A is an autosomal recessive primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T cells and defects in T-cell function (summary by Greil et al., 2013 and Stepensky et al., 2013).
Severe combined immunodeficiency due to CTPS1 deficiency
MedGen UID:
Concept ID:
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).
DOCK2 deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Immunodeficiency-40 is an autosomal recessive primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function. Patients have onset of severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation (summary by Dobbs et al., 2015).
Lung disease, immunodeficiency, and chromosome breakage syndrome;
MedGen UID:
Concept ID:
Disease or Syndrome
LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).
Immunodeficiency 81
MedGen UID:
Concept ID:
Disease or Syndrome
Immunodeficiency-81 (IMD81) is an autosomal recessive complex disorder with onset of recurrent infections, including fungal infections, in early infancy, associated with T-cell, neutrophil, and NK dysfunction. B cells may also show maturation abnormalities. Other features include autoimmune hemolytic anemia and abnormal platelet aggregation, indicating a complex disorder with a wide range of hematopoietic disturbances. The disorder is caused by a defect in intracellular signaling pathways (summary by Lev et al., 2021).

Professional guidelines


Ji N, Mukherjee N, Shu ZJ, Reyes RM, Meeks JJ, McConkey DJ, Gelfond JA, Curiel TJ, Svatek RS
Cancer Immunol Res 2021 Dec;9(12):1491-1503. Epub 2021 Oct 4 doi: 10.1158/2326-6066.CIR-21-0285. PMID: 34607803Free PMC Article
McDonald CA, Payne NL, Sun G, Moussa L, Siatskas C, Lim R, Wallace EM, Jenkin G, Bernard CC
J Neuroinflammation 2015 Jun 3;12:112. doi: 10.1186/s12974-015-0322-8. PMID: 26036872Free PMC Article
Aktas O, Waiczies S, Smorodchenko A, Dorr J, Seeger B, Prozorovski T, Sallach S, Endres M, Brocke S, Nitsch R, Zipp F
J Exp Med 2003 Mar 17;197(6):725-33. Epub 2003 Mar 10 doi: 10.1084/jem.20021425. PMID: 12629065Free PMC Article

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