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Immunologic Manifestations Of Distal 22q11.2 Deletion

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Deletions within the 22q11.2 area differ in measurement and site. The basic 22q11.2 deletion syndrome (22q11.2del) features a deletion of the LCR (low copy repeat)22-A by way of LCR22-B area and may end up in thymic hypoplasia (lymphopenia), hypoparathyroidism (hypocalcemia) and conotruncal coronary heart defects. The TBX1 gene is situated within the LCR22A-B area and is essential for thymic improvement. We hypothesized that deletions distal to LCR22-B wouldn’t be related to T-cell lymphopenia (TCL).

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