CD3G gene defects in familial autoimmune thyroiditis

Research output: Contribution to journalArticlepeer-review


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

Colleges, School and Institutes


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

Sustainable Development Goals