Familial C1q Deficiency Associated with Renal and Cutaneous Disease

Overview

Journal Clin Exp Immunol

Publisher Oxford University Press

Specialty Allergy & Immunology

Date 1981 Apr 1

PMID 6790209

Citations 10

Authors

F Leyva-Cobian

I Moneo

F Mampaso

M Sanchez-Bayle

J L Ecija

A Bootello

Affiliations

Soon will be listed here.

Abstract

A familial C1q deficiency of complement in three siblings has been established. The patients were two brothers and a sister (12, 11 and 9 years old) with clinical and pathological features of Rothmund-Thomson syndrome (Poikiloderma congenital) and mesangial proliferative glomerulonephritis with diffuse IgM deposits. Abnormality has been defined as a total lack of CH50 haemolytic activity, undetectable C1q, failure to correct the defect with functionally pure C2 to C9 complement components, normal values for C2, C3, C4 and C5 and restoration of CH50 haemolytic activity when purified human C1q was added to the assay.

Citing Articles

Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.

Lopez-Lera A, Torres-Canizales J, Garrido S, Morales A, Lopez-Trascasa M J Invest Dermatol. 2013; 134(4):1152-1154.

PMID: 24157463 DOI: 10.1038/jid.2013.444.

Systemic lupus erythematosus and C1q: A quantitative ELISA for determining C1q levels in serum.

Dillon S, Dsouza A, Kurien B, Scofield R Biotechnol J. 2009; 4(8):1210-4.

PMID: 19370710 PMC: 2829988. DOI: 10.1002/biot.200800273.

Complement interaction with trypanosomatid promastigotes in normal human serum.

Dominguez M, Moreno I, Lopez-Trascasa M, Torano A J Exp Med. 2002; 195(4):451-9.

PMID: 11854358 PMC: 2193616. DOI: 10.1084/jem.20011319.

Complement deficiency.

ONeil K Clin Rev Allergy Immunol. 2000; 19(2):83-108.

PMID: 11107496 DOI: 10.1385/CRIAI:19:2:83.

Role of complement component C1q in phagocytosis of Listeria monocytogenes by murine macrophage-like cell lines.

Alvarez-Dominguez C, Carrasco-Marin E, Leyva-Cobian F Infect Immun. 1993; 61(9):3664-72.

PMID: 8359889 PMC: 281062. DOI: 10.1128/iai.61.9.3664-3672.1993.

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