PLCG2-associated antibody deficiency and immune dysregulation


Engelsk navn: PLCG2-associated antibody deficiency and immune dysregulation
Engelske synonym: FACU,Familial atypical cold urticaria,Familial cold urticaria with common variable immunodeficiency,PLAID


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.



Informasjon

Senter for sjeldne diagnoser ved OUS har kunnskap om diagnosen.

ORPHA: 300359
Klassifiseringsnivå: Disorder
ICD-10: L50.2



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