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PLCG2-associated antibody deficiency and immune dysregulation

Disease 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.

ORPHA:300359

  • Synonym(s):
    • FACU
    • Familial atypical cold urticaria
    • Familial cold urticaria with common variable immunodeficiency
    • PLAID
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: L50.2
  • OMIM: 614468
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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