Immunodeficiency with factor H anomaly

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Immunodeficiency with factor H anomaly

A rare genetic primary immunodeficiency disease characterized by increased susceptibility to recurrent usually severe infections (particularly by Neisseria meningitidis Escherichia coli and Haemophilus influenzae) 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.

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 http://www.orphadata.org. Data version February 2024

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Immunodeficiency with factor H anomaly?

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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.