CD3 delta immunodeficiency - PubMed (original) (raw)
Review
CD3 delta immunodeficiency
Chaim M Roifman. Curr Opin Allergy Clin Immunol. 2004 Dec.
Abstract
Purpose of review: The review describes advances in understanding the role of the CD3 delta subunit in human T-cell development as deduced from a recently described human immunodeficiency. The review also compares CD3 delta deficiency with other human CD3 subunit deficiencies and with corresponding animal models.
Recent findings: In describing CD3 delta deficiency in humans this review shows that patients with profound T-cell depletion, who present at 2-3 months with severe viral infection, lack CD3 delta as a result of a mutation in the extracellular domain of this gene. The genetic aberration was discovered by comparing patients' and normal thymocytes, using mass gene screening with the microarray technique. In humans the absence of CD3 delta results in a complete arrest in thymocyte development at the stage of double negative to double positive transition and the development of gamma delta T-cell receptor-positive T cells is also impaired.
Summary: Unlike patients with CD3 gamma or CD3 epsilon deficiency who have a milder condition, patients with CD3 delta deficiency present with severe lethal susceptibility to infections during early infancy. As expected, this profound immunodeficiency was cured with an allogenic bone marrow transplantation. In contrast to murine CD3 (-/) delta, which retains a normal gamma delta T-cell receptor-positive T-cell population and only partly affects the developmental transition of double positive to single positive thymocytes, CD3 delta in humans appears to be more critically required for the development of both alpha beta and gamma delta T-cell receptor-positive T-cell lineages. The studies also show for the first time that comparing relevant patients' with normal tissue using microarray technology can aid in the discovery of the genetic basis of inherited disorders.
Similar articles
- Over-expression of CD3 epsilon transgenes blocks T lymphocyte development.
Wang B, Levelt C, Salio M, Zheng D, Sancho J, Liu CP, She J, Huang M, Higgins K, Sunshine MJ, et al. Wang B, et al. Int Immunol. 1995 Mar;7(3):435-48. doi: 10.1093/intimm/7.3.435. Int Immunol. 1995. PMID: 7794823 - [Expression anomalies of the CD3-TCR complex expression and immunodeficiencies].
Le Deist F, de Saint Basile G, Rieux-Laucat F, Hivroz C, Fischer A. Le Deist F, et al. Med Sci (Paris). 2007 Feb;23(2):161-6. doi: 10.1051/medsci/2007232161. Med Sci (Paris). 2007. PMID: 17291425 Review. French. - CD3 deficiencies.
Fischer A, de Saint Basile G, Le Deist F. Fischer A, et al. Curr Opin Allergy Clin Immunol. 2005 Dec;5(6):491-5. doi: 10.1097/01.all.0000191886.12645.79. Curr Opin Allergy Clin Immunol. 2005. PMID: 16264327 Review. - In vitro expansion of CD3/TCR- human thymocyte populations that selectively lack CD3 delta gene expression: a phenotypic and functional analysis.
Poggi A, Biassoni R, Pella N, Paolieri F, Bellomo R, Bertolini A, Moretta L, Mingari MC. Poggi A, et al. J Exp Med. 1990 Nov 1;172(5):1409-18. doi: 10.1084/jem.172.5.1409. J Exp Med. 1990. PMID: 2146363 Free PMC article.
Cited by
- Identification of key genes and pathways associated with different immune statuses of hepatitis B virus infection.
Jin J, Xu H, Wu R, Gao N, Wu N, Li S, Niu J. Jin J, et al. J Cell Mol Med. 2019 Nov;23(11):7474-7489. doi: 10.1111/jcmm.14616. Epub 2019 Sep 29. J Cell Mol Med. 2019. PMID: 31565863 Free PMC article. - Cells diversify transmembrane signaling through the controlled chaos of protein disorder.
Sigalov AB. Sigalov AB. Self Nonself. 2011 Apr;2(2):75-79. doi: 10.4161/self.2.2.15756. Epub 2011 Apr 1. Self Nonself. 2011. PMID: 22299058 Free PMC article. - Evolution of immunity: no development without risk.
Sigalov AB. Sigalov AB. Immunol Res. 2012 Jun;52(3):176-81. doi: 10.1007/s12026-011-8256-4. Immunol Res. 2012. PMID: 22095544 Review. - The SCHOOL of nature: I. Transmembrane signaling.
Sigalov AB. Sigalov AB. Self Nonself. 2010 Jan;1(1):4-39. doi: 10.4161/self.1.1.10832. Self Nonself. 2010. PMID: 21559175 Free PMC article. - The SCHOOL of nature: III. From mechanistic understanding to novel therapies.
Sigalov AB. Sigalov AB. Self Nonself. 2010 Jul;1(3):192-224. doi: 10.4161/self.1.3.12794. Epub 2010 Jun 11. Self Nonself. 2010. PMID: 21487477 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Research Materials