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Immunodeficiency due to a classical component pathway complement deficiency

Disease definition

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

ORPHA:169147

Classification level: Disorder
  • Synonym(s):
    • Immunodeficiency due to C1, C4, or C2 component complement deficiency
    • Immunodeficiency due to an early component of complement deficiency
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: D84.1
  • OMIM: 216950  217000  613652  613783  614379  614380
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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