Complement factor I deficiency
Last updated 18 Aug 2020
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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 such as pneumonia, meningitis, and sepsis, which may be life-threatening.
Description
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 such as pneumonia, meningitis, and sepsis, which may be life-threatening.
Some people with complement factor I deficiency have a kidney disorder called glomerulonephritis with isolated C3 deposits. Complement factor I deficiency can also be associated with autoimmune disorders such as rheumatoid arthritis or systemic lupus erythematosus (SLE). Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
C3 inactivator deficiency
Complement component 3 inactivator deficiency
Hereditary factor I deficiency disease
Related patient information and medicines
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Further reading and references
- Complement factor I deficiency; MedlinePlus, National Library of Medicine.
- Baracho GV, Nudelman V, Isaac L. Molecular characterization of homozygous hereditary factor I deficiency. Clin Exp Immunol. 2003 Feb;131(2):280-6. doi: 10.1046/j.1365-2249.2003.02077.x.
- Grumach AS, Leitao MF, Arruk VG, Kirschfink M, Condino-Neto A. Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family. Clin Exp Immunol. 2006 Feb;143(2):297-304. doi: 10.1111/j.1365-2249.2005.02988.x.
- Nilsson SC, Trouw LA, Renault N, Miteva MA, Genel F, Zelazko M, Marquart H, Muller K, Sjoholm AG, Truedsson L, Villoutreix BO, Blom AM. Genetic, molecular and functional analyses of complement factor I deficiency. Eur J Immunol. 2009 Jan;39(1):310-23. doi: 10.1002/eji.200838702.
- Pettigrew HD, Teuber SS, Gershwin ME. Clinical significance of complement deficiencies. Ann N Y Acad Sci. 2009 Sep;1173:108-23. doi: 10.1111/j.1749-6632.2009.04633.x.
- Ponce-Castro IM, Gonzalez-Rubio C, Delgado-Cervino EM, Abarrategui-Garrido C, Fontan G, Sanchez-Corral P, Lopez-Trascasa M. Molecular characterization of Complement Factor I deficiency in two Spanish families. Mol Immunol. 2008 May;45(10):2764-71. doi: 10.1016/j.molimm.2008.02.008. Epub 2008 Mar 28.
- Vyse TJ, Morley BJ, Bartok I, Theodoridis EL, Davies KA, Webster AD, Walport MJ. The molecular basis of hereditary complement factor I deficiency. J Clin Invest. 1996 Feb 15;97(4):925-33. doi: 10.1172/JCI118515.
- Vyse TJ, Spath PJ, Davies KA, Morley BJ, Philippe P, Athanassiou P, Giles CM, Walport MJ. Hereditary complement factor I deficiency. QJM. 1994 Jul;87(7):385-401.
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