Front. Immunol., 31 October 2013 | doi: 10.3389/fimmu.2013.00322
E. Graham Davies- Centre for Immunodeficiency, Institute of Child Health, University College London and Great Ormond Street Hospital, London, UK
The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a microdeletion at chromosome 22q11 though other genetic and non-genetic causes have been described. The immunological competence of affected individuals is highly variable, ranging from normal to a severe combined immunodeficiency when there is complete athymia. In the most severe group, correction of the immunodeficiency can be achieved using thymus allografts which can support thymopoiesis even in the absence of donor-recipient matching at the major histocompatibility loci. This review focuses on the causes of DGS, the immunological features of the disorder, and the approaches to correction of the immunodeficiency including the use of thymus transplantation.
Keywords: DiGeorge syndrome, immunodeficiency, thymus transplantation, 22q11 deletion, T-cell development
Citation: Davies EG (2013) Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia. Front. Immunol. 4:322. doi: 10.3389/fimmu.2013.00322
Received: 25 July 2013; Paper pending published: 09 August 2013;
Accepted: 23 September 2013; Published online: 31 October 2013.
Accepted: 23 September 2013; Published online: 31 October 2013.
Edited by:
Menno C. Van Zelm, University Medical Center, Netherlands
Reviewed by:
Andrew Gennery, Newcastle University, UKAnna Sediva, Charles University, Czech Republic
Copyright: © 2013 Davies. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
*Correspondence: E. Graham Davies, Centre for Immunodeficiency, Molecular Immunology Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK e-mail: graham.davies@gosh.nhs.uk
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