Hereditary C1q deficiency and systemic lupus erythematosus

P. Bowness, K. A. Davies, P. J. Norsworthy, P. Athanassiou, Jean A Wiedeman, L. K. Borysiewicz, P. A R Meyer, M. J. Walport

Research output: Contribution to journalArticle

181 Citations (Scopus)

Abstract

We describe a 27-year-old woman with systemic lupus erythematosus, C1q deficiency and cytomegalovirus retinitis. She suffered from severe SLE, with cutaneous and CNS involvement, and died of CNS disease aged 28. Review of 29 other published cases of C1q deficiency shows that SLE in these patients is often severe (five with CNS disease, ten with glomerulonephritis). The results of autoantibody studies in this and another patient with C1q deficiency and SLE are presented both patients had autoantibodies to the extractable nuclear antigens, Sm, RNP and Ro, and one patient had high titres of antibodies to dsDNA. One of the patients had previously been treated with fresh frozen plasma, and antibodies to C1q were present in his serum. Homozygous C1q deficiency is associated with a very high prevalence of severe SLE with the full panoply of autoantibodies characteristic of this disease.

Original languageEnglish (US)
Pages (from-to)455-464
Number of pages10
JournalQuarterly Journal of Medicine
Volume87
Issue number8
StatePublished - 1994

Fingerprint

Systemic Lupus Erythematosus
Autoantibodies
Central Nervous System Diseases
Cytomegalovirus Retinitis
Nuclear Antigens
Antibodies
Glomerulonephritis
Skin
Serum

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Bowness, P., Davies, K. A., Norsworthy, P. J., Athanassiou, P., Wiedeman, J. A., Borysiewicz, L. K., ... Walport, M. J. (1994). Hereditary C1q deficiency and systemic lupus erythematosus. Quarterly Journal of Medicine, 87(8), 455-464.

Hereditary C1q deficiency and systemic lupus erythematosus. / Bowness, P.; Davies, K. A.; Norsworthy, P. J.; Athanassiou, P.; Wiedeman, Jean A; Borysiewicz, L. K.; Meyer, P. A R; Walport, M. J.

In: Quarterly Journal of Medicine, Vol. 87, No. 8, 1994, p. 455-464.

Research output: Contribution to journalArticle

Bowness, P, Davies, KA, Norsworthy, PJ, Athanassiou, P, Wiedeman, JA, Borysiewicz, LK, Meyer, PAR & Walport, MJ 1994, 'Hereditary C1q deficiency and systemic lupus erythematosus', Quarterly Journal of Medicine, vol. 87, no. 8, pp. 455-464.
Bowness P, Davies KA, Norsworthy PJ, Athanassiou P, Wiedeman JA, Borysiewicz LK et al. Hereditary C1q deficiency and systemic lupus erythematosus. Quarterly Journal of Medicine. 1994;87(8):455-464.
Bowness, P. ; Davies, K. A. ; Norsworthy, P. J. ; Athanassiou, P. ; Wiedeman, Jean A ; Borysiewicz, L. K. ; Meyer, P. A R ; Walport, M. J. / Hereditary C1q deficiency and systemic lupus erythematosus. In: Quarterly Journal of Medicine. 1994 ; Vol. 87, No. 8. pp. 455-464.
@article{4d97b2de88944b0a8ed2a054f5c1ab48,
title = "Hereditary C1q deficiency and systemic lupus erythematosus",
abstract = "We describe a 27-year-old woman with systemic lupus erythematosus, C1q deficiency and cytomegalovirus retinitis. She suffered from severe SLE, with cutaneous and CNS involvement, and died of CNS disease aged 28. Review of 29 other published cases of C1q deficiency shows that SLE in these patients is often severe (five with CNS disease, ten with glomerulonephritis). The results of autoantibody studies in this and another patient with C1q deficiency and SLE are presented both patients had autoantibodies to the extractable nuclear antigens, Sm, RNP and Ro, and one patient had high titres of antibodies to dsDNA. One of the patients had previously been treated with fresh frozen plasma, and antibodies to C1q were present in his serum. Homozygous C1q deficiency is associated with a very high prevalence of severe SLE with the full panoply of autoantibodies characteristic of this disease.",
author = "P. Bowness and Davies, {K. A.} and Norsworthy, {P. J.} and P. Athanassiou and Wiedeman, {Jean A} and Borysiewicz, {L. K.} and Meyer, {P. A R} and Walport, {M. J.}",
year = "1994",
language = "English (US)",
volume = "87",
pages = "455--464",
journal = "QJM",
issn = "1460-2725",
publisher = "Oxford University Press",
number = "8",

}

TY - JOUR

T1 - Hereditary C1q deficiency and systemic lupus erythematosus

AU - Bowness, P.

AU - Davies, K. A.

AU - Norsworthy, P. J.

AU - Athanassiou, P.

AU - Wiedeman, Jean A

AU - Borysiewicz, L. K.

AU - Meyer, P. A R

AU - Walport, M. J.

PY - 1994

Y1 - 1994

N2 - We describe a 27-year-old woman with systemic lupus erythematosus, C1q deficiency and cytomegalovirus retinitis. She suffered from severe SLE, with cutaneous and CNS involvement, and died of CNS disease aged 28. Review of 29 other published cases of C1q deficiency shows that SLE in these patients is often severe (five with CNS disease, ten with glomerulonephritis). The results of autoantibody studies in this and another patient with C1q deficiency and SLE are presented both patients had autoantibodies to the extractable nuclear antigens, Sm, RNP and Ro, and one patient had high titres of antibodies to dsDNA. One of the patients had previously been treated with fresh frozen plasma, and antibodies to C1q were present in his serum. Homozygous C1q deficiency is associated with a very high prevalence of severe SLE with the full panoply of autoantibodies characteristic of this disease.

AB - We describe a 27-year-old woman with systemic lupus erythematosus, C1q deficiency and cytomegalovirus retinitis. She suffered from severe SLE, with cutaneous and CNS involvement, and died of CNS disease aged 28. Review of 29 other published cases of C1q deficiency shows that SLE in these patients is often severe (five with CNS disease, ten with glomerulonephritis). The results of autoantibody studies in this and another patient with C1q deficiency and SLE are presented both patients had autoantibodies to the extractable nuclear antigens, Sm, RNP and Ro, and one patient had high titres of antibodies to dsDNA. One of the patients had previously been treated with fresh frozen plasma, and antibodies to C1q were present in his serum. Homozygous C1q deficiency is associated with a very high prevalence of severe SLE with the full panoply of autoantibodies characteristic of this disease.

UR - http://www.scopus.com/inward/record.url?scp=0028093373&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028093373&partnerID=8YFLogxK

M3 - Article

C2 - 7922299

AN - SCOPUS:0028093373

VL - 87

SP - 455

EP - 464

JO - QJM

JF - QJM

SN - 1460-2725

IS - 8

ER -