Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia - PubMed (original) (raw)

Review

Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia

E Graham Davies. Front Immunol. 2013.

Abstract

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: 22q11 deletion; DiGeorge syndrome; T-cell development; immunodeficiency; thymus transplantation.

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Figures

Figure 1

Figure 1

T-cell receptor spectratyping of 24 Vβ families obtained using polymerase chain reaction amplification across the VDJ region and then plotting according to the size of the PCR products. Patient with atypical cDGS showing very abnormal spectratype with several completely missing families and abnormal skewed distribution in other families.

Figure 2

Figure 2

T-cell receptor spectratyping performed as in legend to Figure 1. Same patient as in Figure 1, 23 months after thymus transplantation. Much more normal spectratype. All families represented mostly with Gaussian distribution.

Figure 3

Figure 3

Low-power view of a biopsy of transplanted thymus stained with Hematoxylin and Eosin. Normal looking thymic tissue surrounded by striated muscle. There is good corticomedullary distinction.

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