Complement factor I deficiency
Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections
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Symptoms List: Complement factor I deficiency
Symptoms and clinical features may include:2 Clinical Features of Complement Factor I Deficiency:
- Autosomal recessive inheritance
- Recurrent urinary tract infections
- Renal insufficiency
- Glomerulonephritis
- Recurrent otitis media
- Arthritis
- Recurrent skin infections
- Vasculitis
- Juvenile onset
- Decreased serum complement factor I
- Recurrent streptococcus pneumoniae infections
- Decreased serum complement factor ...
Genetics of Complement factor I deficiency
Genetic Changes:
Complement factor I deficiency is caused by mutations in the CFI gene. This gene provides instructions for making a protein called complement factor I. This protein helps regulate a part of the body's immune response known as the
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Names and Terminology
Other Names for This Condition
Source: GHR (NLM/NIH)4
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References
- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ complement-factor-i-deficiency
- Source: Human Phenotype Ontology
- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ complement-factor-i-deficiency
- ibid.
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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.