| Complete complement deficiency in a large cohort of familial systemic lupus erythematosus. | |
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MedLine Citation:
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PMID: 19910391 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Genetic complete deficiency of the early complement components such as C1, C2 and C4 commonly results in a monogenetic form of systemic lupus erythematosus (SLE). However, previous studies have examined groups of complete complement deficient subjects for SLE, while a familial SLE cohort has not been studied for deficiencies of complement. Thus, we undertook the present study to determine the frequency of hereditary complete complement deficiencies among families with two or more SLE patients. All SLE patients from 544 such families had CH50 determined. Medical records were examined for past CH50 values. There were 66 individuals in whom all available CH50 values were zero. All but four of these had a SLE-affected relative with a non-zero CH50; thus, these families did not have monogenetic complement deficient related SLE. The four remaining SLE-affected subjects were in fact two sets of siblings in which three of the four SLE patients had onset of disease at <18 years of age. Both patients in one of these families had been determined to have C4 deficiency, while the other family had no clinical diagnosis of complement deficiency. In this second family, one of the SLE patients had had normal C4 and C3 values, indicating that either C1q or C2 deficiency was possible. Thus, only 2 of 544 SLE families had definite or possible complement deficiency; however, 1 of 7 families in which all SLE patients had pediatric onset and 2 of 85 families with at least 1 pediatric-onset SLE patent had complete complement deficiency. SLE is found commonly among families with hereditary complement deficiency but the reverse is not true. Complete complement deficiency is rare among families with two or more SLE patients, but is concentrated among families with onset of SLE prior to age 18. |
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Authors:
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R Aggarwal; A L Sestak; A D'Sousa; S P Dillon; B Namjou; R H Scofield |
Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2009-11-12 |
Journal Detail:
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Title: Lupus Volume: 19 ISSN: 1477-0962 ISO Abbreviation: Lupus Publication Date: 2010 Jan |
Date Detail:
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Created Date: 2010-01-06 Completed Date: 2010-03-10 Revised Date: 2011-08-01 |
Medline Journal Info:
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Nlm Unique ID: 9204265 Medline TA: Lupus Country: England |
Other Details:
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Languages: eng Pagination: 52-7 Citation Subset: IM |
Affiliation:
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Arthritis and Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cohort Studies Complement C2 / deficiency Complement C3 / deficiency Complement C4 / deficiency Complement System Proteins / deficiency* Humans Lupus Erythematosus, Systemic / genetics*, immunology* |
| Grant Support | |
ID/Acronym/Agency:
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AR053734/AR/NIAMS NIH HHS; AR48204/AR/NIAMS NIH HHS; K24 AR049743-05/AR/NIAMS NIH HHS; R01 AR053734-04/AR/NIAMS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Complement C2; 0/Complement C3; 0/Complement C4; 9007-36-7/Complement System Proteins |
| Comments/Corrections | |
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