18 research outputs found
Immediate type hypersensitivity to low molecular weight heparins and tolerance of unfractioned heparin and fondaparinux
Not all ACE inhibitor related angioedema is always evident: A case which is misdiagnosed as panic attack and speech disorder
A successful pregnancy and uncomplicated labor with C1INH concentrate prophylaxis in a patient with hereditary angioedema
The role of ace gene polymorphism in the development of angioedema secondary to angiotensin converting enzyme inhibitors and angiotensin II receptor blockers
Physicians' knowledge of and opinions about inhaler treatments in asthma and COPD: the INTEDA-1 study
30th Congress of the European-Academy-of-Allergy-and-Clinical-Immunology (EAACI) -- JUN 11-15, 2011 -- Istanbul, TURKEYWOS: 000329462202136European Acad Allergy & Clin Immunol (EAACI
CD3G gene defects in familial autoimmune thyroiditis
The patients with CD3 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 11years (14months-20years). 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(+)TCR+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