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CD3G Gene Defects in Familial Autoimmune Thyroiditis
Author(s) -
Gokturk B.,
Keles S.,
Kirac M.,
Artac H.,
Tokgoz H.,
Guner S. N.,
Caliskan U.,
Caliskaner Z.,
Burg M.,
Dongen J.,
Morgan N. V.,
Reisli I.
Publication year - 2014
Publication title -
scandinavian journal of immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.934
H-Index - 88
eISSN - 1365-3083
pISSN - 0300-9475
DOI - 10.1111/sji.12200
Subject(s) - autoimmunity , immunology , medicine , immunodeficiency , vitiligo , thyroiditis , autoimmune thyroiditis , immune system , thyroid
The patients with CD 3 γ deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new CD 3gamma‐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 CD 3 G gene (c.80‐1 G > C ). We also re‐evaluate a previously reported non‐consanguineous family with two CD 3gamma‐deficient siblings with the same mutation. The median age at diagnosis was 11 years (14 months–20 years). We found all five patients to display autoimmunity: autoimmune thyroiditis ( n = 5), autoimmune haemolytic anaemia ( n = 2), immune thrombocytopenia ( n = 1), autoimmune hepatitis ( n = 1), minimal change nephrotic syndrome ( n = 1), vitiligo ( n = 1) and positive antinuclear antibodies ( n = 3) as well as high I g E ( n = 2) and atopic eczema ( n = 2). While CD 3 + TCR αβ + T cell percentages were low in all patients, only one had lymphopenia and 3 had CD 3 + T cell lymphopenia. Strikingly, we report frequent and multiple autoimmunity in tested heterozygous carriers in both families ( n = 6; in 67%), and frequent autoimmunity in family members not available for testing ( n = 5, in 80%). The results suggest that CD3G should be studied as a candidate gene for autoimmunity and that CD3gamma deficiency should be considered among other primary immunodeficiencies with predominantly autoimmune manifestations.