Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement component C1q deficiency

C1q deficiency is an autosomal recessive disorder caused by inactivating mutations in one of its protein components coding genes C1QA, C1QB, or C1QC. The clinical presentation includes susceptibility to infections and autoimmune disorders such as lupus erythematodes.

Systematic

Early pathway complement deficiencies
Complement component C1q deficiency
C1QA
C1QB
C1QC
Complement component C1r/C1s deficiency
Complement component C1s deficiency

References:

1.

Topaloglu R et. al. (1996) Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family.

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2.

Petry F et. al. (1997) Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis.

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3.

Botto M et. al. (1998) Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies.

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4.

McAdam RA et. al. (1988) A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual.

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5.

Hannema AJ et. al. (1984) SLE like syndrome and functional deficiency of C1q in members of a large family.

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6.

Thompson RA et. al. (1980) A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis.

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7.

Slingsby JH et. al. (1996) Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families.

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8.

None (1986) Summary of reported deficiencies.

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9.

Mampaso F et. al. (1981) Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome.

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10.

Garlanda C et. al. (2002) Non-redundant role of the long pentraxin PTX3 in anti-fungal innate immune response.

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Update: Sept. 26, 2018