Immunodeficiency with factor H anomaly

Orpha code: 200421OMIM code: 609814

Definition

A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by <i> Neisseria meningitidis</i>, <i>Escherichia coli</i>, and <i>Haemophilus influenzae</i>), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components.

Disease data
Classification

Disease

ORPHA code
200421
OMIM code
609814
ICD10 code
D84.1
ICD11 code
4A00.1Y

No additional description.

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