PLCG2-associated antibody deficiency and immune dysregulation

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PLCG2-associated antibody deficiency and immune dysregulation

Synonyms: FACU | Familial atypical cold urticaria | Familial cold urticaria with common variable immunodeficiency | PLAID

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version February 2024

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PLCG2-associated antibody deficiency and immune dysregulation?

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Advocacy Organizations

Ukrainian Association of Pediatric Immunology

Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.

Clinical Trials

For a list of clinical trials in this disease area, please click here.