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Complement 3 deficiency information


Complement 3 deficiency
Structure of the C3 protein. Based on PyMOL rendering of PDB 1c3d
SpecialtyImmunology

Complement 3 deficiency is a genetic condition affecting complement component 3 (C3). People can suffer from either primary or secondary C3 deficiency. Primary C3 deficiency refers to an inherited autosomal-recessive disorder that involves mutations in the gene for C3.[1] Secondary C3 deficiency results from a lack of factor I or factor H, two proteins that are key for the regulation of C3.[2] Both primary and secondary C3 deficiency are characterized by low levels or absence of C3.[3]

  1. ^ Okura, Yuka; Kobayashi, Ichiro; Yamada, Masafumi; Sasaki, Satoshi; Yamada, Yutaka; Kamioka, Ichiro; Kanai, Rie; Takahashi, Yutaka; Ariga, Tadashi (2016). "Clinical characteristics and genotype-phenotype correlations in C3 deficiency". Journal of Allergy and Clinical Immunology. 137 (2): 640–644.e1. doi:10.1016/j.jaci.2015.08.017. ISSN 0091-6749. PMID 26435005.
  2. ^ Degn, Søren E.; Jensenius, Jens C.; Thiel, Steffen (2011). "Disease-Causing Mutations in Genes of the Complement System". The American Journal of Human Genetics. 88 (6): 689–705. doi:10.1016/j.ajhg.2011.05.011. ISSN 0002-9297. PMC 3113252. PMID 21664996.
  3. ^ Skattum, Lillemor; van Deuren, Marcel; van der Poll, Tom; Truedsson, Lennart (2011). "Complement deficiency states and associated infections". Molecular Immunology. 48 (14): 1643–1655. doi:10.1016/j.molimm.2011.05.001. ISSN 0161-5890. PMID 21624663.

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