Complement component 5 deficiencyD84.1

Complement component 5 deficiency is caused by a homozygous or heterozygous mutation in the C5 gene (120900) on chromosome 9q33. C5 deficiencies are characterized by recurrent infections due to immune deficiency. Associated diseases are: chronic discoid and systemic lupus erythematosus.

Population genetics: Screening for complement deficiencies in 145 640 blood donors from Osaka identified 5 individuals with C5 deficiency (2/100,000), 6 individuals with C6 deficiency (612446), 17 individuals with C7 deficiency (610102), 5 individuals with C8 alpha/gamma deficiency (613790), and 439 individuals with C9 deficiency (613825) (Fukumori et al. 1998).

Jacobs and Miller (1972) reported a family with C5 deficiency. The clinical picture corresponded to the disease of erythrodermia desquamativa first described by Leiner in 1908 and was characterized by four main features:

• generalized seborrheic dermatitis
• persistent diarrhea
• recurrent local and systemic infections, usually of gram-negative etiology,
• marked emaciation (note: the disease "erythrodermia desquamativa" is not seen today as an entity, but rather as a catch-all of different diseases with immunodeficiencies, including C5 deficiencies see also Sanghvi SY et al. 2021)

Rosenfeld and Leddy (1974) found a relationship with C5 deficiency in a patient with systemic lupus erythematosus, frequent bacterial infections, and lack of serum hemolytic complement activity.

Asghar et al (1991) described C5 deficiency in association with chronic discoid lupus erythematosus (CDLE).

Snyderman et al (1979) demonstrated that repeated disseminated gonococcal infection may be associated with C5 deficiency.

Sanal et al (1992) described a consanguineous third-generation Turkish family in which many individuals had C5 deficiency. The affected individuals suffered from recurrent meningitis and meningococcal disease and recurrent purulent otitis media.

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