CD3G gene defects in familial autoimmune thyroiditis

B Gokturk, S Keles, M Kirac, H Artac, H Tokgoz, S N Guner, U Caliskan, Z Caliskaner, M van der Burg, J van Dongen, N V Morgan, I Reisli

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


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 non-consanguineous family with two CD3gamma-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 IgE (n = 2) and atopic eczema (n = 2). While CD3(+) TCRαβ+T cell percentages were low in all patients, only one had lymphopenia and 3 had CD3(+) 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.

Original languageEnglish
Pages (from-to)354-61
Number of pages8
JournalScandinavian Journal of Immunology
Issue number5
Publication statusPublished - Nov 2014


  • Adult
  • Anemia, Hemolytic, Autoimmune
  • Antibodies, Antinuclear
  • Antigens, CD3
  • Autoimmunity
  • B-Lymphocytes
  • Child
  • Dermatitis, Atopic
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Hepatitis, Autoimmune
  • Humans
  • Immunoglobulin E
  • Infant
  • Killer Cells, Natural
  • Lymphopenia
  • Male
  • Nephrosis, Lipoid
  • Pedigree
  • Purpura, Thrombocytopenic, Idiopathic
  • T-Lymphocytes
  • Thyroiditis, Autoimmune
  • Vitiligo
  • Young Adult


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