Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Disease data Classification Disease Synonyms FACU FACU plAID Rodzinna atypowa pokrzywka z zimna Rodzinna pokrzywka z zimna z powszechnym zmiennym niedoborem odporności Familial atypical cold urticaria Familial cold urticaria with common variable immunodeficiency PLAID ORPHA code 300359 OMIM code 614468 ICD10 code L50.2 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl