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
Definisjon
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.
Fra Orphanet
ORPHA: 300359
Klassifiseringsnivå: Disorder
ICD-10: L50.2
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
