| pubmed-article:1347491 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1347491 | lifeskim:mentions | umls-concept:C0024141 | lld:lifeskim |
| pubmed-article:1347491 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:1347491 | lifeskim:mentions | umls-concept:C1413000 | lld:lifeskim |
| pubmed-article:1347491 | lifeskim:mentions | umls-concept:C0439810 | lld:lifeskim |
| pubmed-article:1347491 | lifeskim:mentions | umls-concept:C0205195 | lld:lifeskim |
| pubmed-article:1347491 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:1347491 | pubmed:dateCreated | 1992-4-13 | lld:pubmed |
| pubmed-article:1347491 | pubmed:abstractText | The first inherited combined total deficiency of C7 and C4B complement components associated with SLE is described in a young female. Functional C7 assays showed a homozygous C7 deficiency in the propositus and her sister, and an heterozygous one in their parents. C4 molecular analyses showed that both the propositus and her mother had two HLA haplotypes carrying only C4A-specific DNA sequences and a normal C4 gene number. Thus, only C4A proteins could be expressed, with resultant normal C4 serum levels. The coexistence of a combined complete C7 and C4B deficiency may therefore abrogate essential functions of the complement cascade presumably related to immune complex handling and solubilization despite an excess of circulating C4A. These findings challenge the putative pathophysiological roles of C4A and C4B and stress the need to perform both functional assays and C4 allotyping in patients with autoimmune pathology and low haemolytic activity without low serum levels of a classical pathway complement component. | lld:pubmed |
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| pubmed-article:1347491 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1347491 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1347491 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:1347491 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1347491 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:1347491 | pubmed:issn | 0009-9104 | lld:pubmed |
| pubmed-article:1347491 | pubmed:author | pubmed-author:Lopez-Trascas... | lld:pubmed |
| pubmed-article:1347491 | pubmed:author | pubmed-author:FontanGG | lld:pubmed |
| pubmed-article:1347491 | pubmed:author | pubmed-author:VicarioJ LJL | lld:pubmed |
| pubmed-article:1347491 | pubmed:author | pubmed-author:SeguradoO GOG | lld:pubmed |
| pubmed-article:1347491 | pubmed:author | pubmed-author:Martinez-Laso... | lld:pubmed |
| pubmed-article:1347491 | pubmed:author | pubmed-author:Iglesias-Casa... | lld:pubmed |
| pubmed-article:1347491 | pubmed:author | pubmed-author:Arnaiz-Villen... | lld:pubmed |
| pubmed-article:1347491 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1347491 | pubmed:volume | 87 | lld:pubmed |
| pubmed-article:1347491 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1347491 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1347491 | pubmed:pagination | 410-4 | lld:pubmed |
| pubmed-article:1347491 | pubmed:dateRevised | 2010-9-7 | lld:pubmed |
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| pubmed-article:1347491 | pubmed:meshHeading | pubmed-meshheading:1347491-... | lld:pubmed |
| pubmed-article:1347491 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1347491 | pubmed:articleTitle | Combined total deficiency of C7 and C4B with systemic lupus erythematosus (SLE). | lld:pubmed |
| pubmed-article:1347491 | pubmed:affiliation | Department of Immunology, Hospital 12 de Octubre, Madrid, Spain. | lld:pubmed |
| pubmed-article:1347491 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1347491 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:1347491 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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