Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement C5 deficiency

Complement component C5 deficiency is an autosomal recessive disorder caused by mutations in the C5 gene which may results in various immonological condition such as impaired defense of infections opsonization and phagocatosis in particular.

Classification

The few cases reported so far showed generalized seborrheic dermatitis, resistent diarrhea, recurrent infections of gram-negative bacteria, and wasting.

Epidemiology

C5 deficiency has a frequency of about 1/50000 in Japan.[Error: Macro 'ref' doesn't exist]

Systematic

Hereditary complement disorders
CR1 deficiency
Complement C2 deficiency
Complement C3 deficiency
Complement C5 deficiency
C5
Complement C6 deficiency
Complement C7 deficiency
Complement C8 deficiency
Complement C9 deficiency
Complement component C4 deficiency
Complement factor D deficiency
Complement factor I deficiency
Early pathway complement deficiencies
Hereditary Angioedema
Properdin deficiency, X-linked
Terminal pathway complement deficiencies
Thrombotic microangiopathies

References:

1.

Wetsel RA et al. (1990) Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon.

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2.

Wang X et al. (1995) Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.

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3.

Snyderman R et al. (1979) Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred.

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4.

Rosenfeld SI et al. (1976) Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-deficient human serum.

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5.

Sanal O et al. (1992) Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families.

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6.

Shield JP et al. (1992) Lethal congenital erythroderma: a newly recognised genetic disorder.

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7.

Asghar SS et al. (1991) Hereditary deficiency of C5 in association with discoid lupus erythematosus.

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8.

Schifferli JA et al. (1985) Meningococcal meningitis in the first case of complement deficiency.

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9.

Glover MT et al. (1988) Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency.

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10.

Simon C et al. (1965) [On a fatally progressing disease of 3 brothers under the picture of erythrodermia desquamativa Leiner].

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11.

Jacobs JC et al. (1972) Fatal familial Leiner's disease: a deficiency of the opsonic activity of serum complement.

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12.

Miller ME et al. (1970) A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5).

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13.

Fukumori Y et al. (1998) Terminal complement component deficiencies in Japan.

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14.

OMIM.ORG article

Omim 609536 [^]
Update: April 29, 2019