Complement component 3 deficiency

Orpha code: 280133OMIM code: 613779

Definition

Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.

Disease data
Classification

Disease

Synonyms
C3 deficiency
Niedobór C3
ORPHA code
280133
OMIM code
613779
ICD10 code
D84.1
ICD11 code
-

No additional description.

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