Article
CD3G gene defects in familial autoimmune thyroiditis.
Scandinavian journal of immunology - 1 Nov 2014
Gokturk B, Keles S, Kirac M, Artac H, Tokgoz H, Guner S N, Caliskan U, Caliskaner Z, van der Burg M, van Dongen J, Morgan N V, Reisli I
Abstract excerpt
The patients with CD3γ deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new CD3gamma-deficient siblings from a consanguineous family with a combined T-B+NK+ immunodeficiency and their variable clinical and cellular phenotypes despite the same homozygous mutation of the CD3G gene (c.80-1G>C). We also re-evaluate a previously reported...
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