DiGeorge syndrome(English)

• due to T-cell immunodeficiency caused by thymic stromal deficiency. 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. The DGS phenotype is very heterogenous with variable expression of the different features including the immunodeficiency, hypoparathyroidism, cardiac malformations, and facial abnormalities
• NCC, SCID, WHD
• Immunology, Congenital disorders, Thymus
• https://doi.org…immu.2013.00322