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Decreased T cell activation

MedGen UID:
339550
Concept ID:
C1846550
Finding
Synonyms: Defective T cell activation; Profound depletion of T4+ lymphocytes
 
HPO: HP:0005419

Definition

Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. [from HPO]

Term Hierarchy

Conditions with this feature

Hyper-IgM syndrome type 1
MedGen UID:
96019
Concept ID:
C0398689
Disease or Syndrome
X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG, IgA, and IgE with normal or elevated serum concentrations of IgM. Mitogen proliferation may be normal, but NK- and T-cell cytotoxicity can be impaired. Antigen-specific responses are usually decreased or absent. Total numbers of B cells are normal but there is a marked reduction of class-switched memory B cells. Defective oxidative burst of both neutrophils and macrophages has been reported. The range of clinical findings varies, even within the same family. More than 50% of males with HIGM1 develop symptoms by age one year, and more than 90% are symptomatic by age four years. HIGM1 usually presents in infancy with recurrent upper- and lower-respiratory tract bacterial infections, opportunistic infections including Pneumocystis jirovecii pneumonia, and recurrent or protracted diarrhea that can be infectious or noninfectious and is associated with failure to thrive. Neutropenia is common; thrombocytopenia and anemia are less commonly seen. Autoimmune and/or inflammatory disorders (such as sclerosing cholangitis) as well as increased risk for neoplasms have been reported as medical complications of this disorder. Significant neurologic complications, often the result of a CNS infection, are seen in 5%-15% of affected males. Liver disease, a serious complication of HIGM1 once observed in more than 80% of affected males by age 20 years, may be decreasing with adequate screening and treatment of Cryptosporidium infection.
Autoimmune lymphoproliferative syndrome type 2B
MedGen UID:
339548
Concept ID:
C1846545
Disease or Syndrome
Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation of 'double-negative T cells' (DNT; T-cell receptor alpha/beta+, CD4-/CD8-), defective FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation, with recurrent bacterial and viral infections (summary by Madkaikar et al., 2011).
Vici syndrome
MedGen UID:
340962
Concept ID:
C1855772
Disease or Syndrome
With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.
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).
Severe combined immunodeficiency due to CARMIL2 deficiency
MedGen UID:
1648422
Concept ID:
C4748304
Disease or Syndrome
Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018).
Inflammatory bowel disease, immunodeficiency, and encephalopathy
MedGen UID:
1648434
Concept ID:
C4748708
Disease or Syndrome
A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.

Professional guidelines

PubMed

Briceño O, Pinto-Cardoso S, Rodríguez-Bernabe N, Murakami-Ogasawara A, Reyes-Terán G
PLoS One 2016;11(11):e0166496. Epub 2016 Nov 29 doi: 10.1371/journal.pone.0166496. PMID: 27898686Free PMC Article
Morón-López S, Gómez-Mora E, Salgado M, Ouchi D, Puertas MC, Urrea V, Navarro J, Jou A, Pérez M, Tural C, Clotet B, Montaner LJ, Blanco J, Crespo M, Martinez-Picado J
J Infect Dis 2016 Mar 15;213(6):1008-12. Epub 2015 Nov 1 doi: 10.1093/infdis/jiv521. PMID: 26525407Free PMC Article
Jordan JK
Ann Pharmacother 2005 Sep;39(9):1476-82. Epub 2005 Jul 5 doi: 10.1345/aph.1G074. PMID: 15998666

Recent clinical studies

Etiology

Castillo-Mancilla JR, Meditz A, Wilson C, Zheng JH, Palmer BE, Lee EJ, Gardner EM, Seifert S, Kerr B, Bushman LR, MaWhinney S, Anderson PL
J Acquir Immune Defic Syndr 2015 Apr 15;68(5):495-501. doi: 10.1097/QAI.0000000000000529. PMID: 25763783Free PMC Article
Avivi I, Stroopinsky D, Katz T
Blood Rev 2013 Sep;27(5):217-23. Epub 2013 Aug 13 doi: 10.1016/j.blre.2013.07.002. PMID: 23953071
Papasavvas E, Sandberg JK, Rutstein R, Moore EC, Mackiewicz A, Thiel B, Pistilli M, June RR, Jordan KA, Gross R, Maino VC, Nixon DF, Montaner LJ
J Infect Dis 2003 Sep 15;188(6):873-82. Epub 2003 Sep 4 doi: 10.1086/377645. PMID: 12964119
Milosevits J, Dénes R, Poros A, Reményi P, Bátai A, Barta A, Masszi T, Lengyel L, Jakab K, Földi J
Int J Hematol 1995 Jul;62(1):27-33. doi: 10.1016/0925-5710(95)00377-5. PMID: 7670005

Diagnosis

Hsu HC, Scott DK, Mountz JD
Immunol Rev 2005 Jun;205:130-46. doi: 10.1111/j.0105-2896.2005.00270.x. PMID: 15882350

Therapy

Váraljai R, Zimmer L, Al-Matary Y, Kaptein P, Albrecht LJ, Shannan B, Brase JC, Gusenleitner D, Amaral T, Wyss N, Utikal J, Flatz L, Rambow F, Reinhardt HC, Dick J, Engel DR, Horn S, Ugurel S, Sondermann W, Livingstone E, Sucker A, Paschen A, Zhao F, Placke JM, Klose JM, Fendler WP, Thommen DS, Helfrich I, Schadendorf D, Roesch A
Nat Cancer 2023 Sep;4(9):1292-1308. Epub 2023 Jul 31 doi: 10.1038/s43018-023-00610-2. PMID: 37525015Free PMC Article
Côté-Daigneault J, Mehandru S, Ungaro R, Atreja A, Colombel JF
Inflamm Bowel Dis 2016 Mar;22(3):724-32. doi: 10.1097/MIB.0000000000000640. PMID: 26809008
Castillo-Mancilla JR, Meditz A, Wilson C, Zheng JH, Palmer BE, Lee EJ, Gardner EM, Seifert S, Kerr B, Bushman LR, MaWhinney S, Anderson PL
J Acquir Immune Defic Syndr 2015 Apr 15;68(5):495-501. doi: 10.1097/QAI.0000000000000529. PMID: 25763783Free PMC Article
Avivi I, Stroopinsky D, Katz T
Blood Rev 2013 Sep;27(5):217-23. Epub 2013 Aug 13 doi: 10.1016/j.blre.2013.07.002. PMID: 23953071
Yukl SA, Shergill AK, McQuaid K, Gianella S, Lampiris H, Hare CB, Pandori M, Sinclair E, Günthard HF, Fischer M, Wong JK, Havlir DV
AIDS 2010 Oct 23;24(16):2451-60. doi: 10.1097/QAD.0b013e32833ef7bb. PMID: 20827162Free PMC Article

Prognosis

Váraljai R, Zimmer L, Al-Matary Y, Kaptein P, Albrecht LJ, Shannan B, Brase JC, Gusenleitner D, Amaral T, Wyss N, Utikal J, Flatz L, Rambow F, Reinhardt HC, Dick J, Engel DR, Horn S, Ugurel S, Sondermann W, Livingstone E, Sucker A, Paschen A, Zhao F, Placke JM, Klose JM, Fendler WP, Thommen DS, Helfrich I, Schadendorf D, Roesch A
Nat Cancer 2023 Sep;4(9):1292-1308. Epub 2023 Jul 31 doi: 10.1038/s43018-023-00610-2. PMID: 37525015Free PMC Article
Liu X, Lin L, Lv T, Lu L, Li X, Han Y, Qiu Z, Li X, Li Y, Song X, Cao W, Li T
Phytomedicine 2022 Jul;101:154103. Epub 2022 Apr 17 doi: 10.1016/j.phymed.2022.154103. PMID: 35468451
Dilioglou S, Cruse JM, Lewis RE
Exp Mol Pathol 2003 Aug;75(1):18-33. doi: 10.1016/s0014-4800(03)00034-0. PMID: 12834622
Milosevits J, Dénes R, Poros A, Reményi P, Bátai A, Barta A, Masszi T, Lengyel L, Jakab K, Földi J
Int J Hematol 1995 Jul;62(1):27-33. doi: 10.1016/0925-5710(95)00377-5. PMID: 7670005

Clinical prediction guides

Váraljai R, Zimmer L, Al-Matary Y, Kaptein P, Albrecht LJ, Shannan B, Brase JC, Gusenleitner D, Amaral T, Wyss N, Utikal J, Flatz L, Rambow F, Reinhardt HC, Dick J, Engel DR, Horn S, Ugurel S, Sondermann W, Livingstone E, Sucker A, Paschen A, Zhao F, Placke JM, Klose JM, Fendler WP, Thommen DS, Helfrich I, Schadendorf D, Roesch A
Nat Cancer 2023 Sep;4(9):1292-1308. Epub 2023 Jul 31 doi: 10.1038/s43018-023-00610-2. PMID: 37525015Free PMC Article
Dubouchet L, Todorov H, Seurinck R, Vallet N, Van Gassen S, Corneau A, Blanc C, Zouali H, Boland A, Deleuze JF, Ingram B, de Latour RP, Saeys Y, Socié G, Michonneau D
Sci Transl Med 2022 Feb 23;14(633):eabg3083. doi: 10.1126/scitranslmed.abg3083. PMID: 35196024
Kugyelka R, Prenek L, Olasz K, Kohl Z, Botz B, Glant TT, Berki T, Boldizsár F
Cells 2019 May 24;8(5) doi: 10.3390/cells8050504. PMID: 31137740Free PMC Article
Dukovska D, Fernández-Soto D, Valés-Gómez M, Reyburn HT
Front Immunol 2018;9:390. Epub 2018 Mar 1 doi: 10.3389/fimmu.2018.00390. PMID: 29545803Free PMC Article
Avivi I, Stroopinsky D, Katz T
Blood Rev 2013 Sep;27(5):217-23. Epub 2013 Aug 13 doi: 10.1016/j.blre.2013.07.002. PMID: 23953071

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