Immunodeficiency with factor I anomaly
Synonyms: Complete factor I deficiency
A rare genetic primary immunodeficiency disease characterized by increased susceptibility to recurrent usually severe infections (particularly by Neisseria meningitidis Haemophilus influenzae and Streptococcus pneumoniae) typically manifesting as otitis sinusitis bronchitis pneumonia and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals in addition to diminished or undetectable complement factor I variably decreased complement C3 complement factor B and complement factor H.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Immunodeficiency with factor I anomaly?
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Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
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