Complement component 3 deficiency, autosomal recessive D84.1

C3 deficiency (613779) is caused by a homozygous or compound heterozygous mutation in the C3 gene (120700) on chromosome 19p13

Pussell et al (1980) described a family in which three children had homozygous C3 deficiency and both parents and two other children were heterozygous for a C3 null gene. The parents were presumably cousins. The homozygous and heterozygous children were prone to infections. Proteinuria and/or microscopic hematuria were present in all 3 homozygous children, and one heterozygous child had membranoproliferative glomerulonephritis. The only child with normal complement had neither nephritis nor increased susceptibility to infection.

Sano et al (1981) reported 2 sisters with C3 deficiency and SLE-like symptoms.

Berger et al (1983) and Borzy et al (1988) observed C3-deficient homozygotes who developed mesangiocapillary glomerulonephritis. It was suggested that the association between C3 deficiency and nephritis was due to the failure of a second physiological activity of the complement system, namely, the promotion of immune complex disposal by the mononuclear phagocytic system.

Nilsson et al (1992) described three sisters with dysfunctional C3 allele. Complement function of the alternative pathway was absent, and complement function of the classical pathway was partially intact. One of the sisters, had SLE-like disease.

Botto et al (1990) described a 10-year-old boy with recurrent otitis media during the first three years of life. Between the ages of 5 and 8 years, he had approximately 20 episodes of erythema multiforme (face, forearms, and hands). The episodes were usually preceded by an upper respiratory tract infection, and a group A beta-hemolytic streptococcus was isolated from his throat during two episodes. C3 could not be detected in the patient's serum.

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10. Tsukamoto H et al. (2005) Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. Biochem Biophys Res Commun 330: 298-304.