PLCG2-associated antibody deficiency and immune dysregulation

Orpha code: 300359OMIM code: 614468

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
-

No additional description.

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