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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2009-1-9
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pubmed:abstractText |
The aim of this work was to analyse C4 genotypes, C4 protein levels, phenotypes and genotypes in patients with the classical form of 21-hydroxylase deficiency. Fifty-four patients from 46 families (36 female, 18 male; mean age 10.8 years) with different clinical manifestations (31 salt-wasting; 23 simple-virilizing) were studied. Taq I Southern blotting was used to perform molecular analysis of the C4/CYP21 gene cluster and the genotypes were defined according to gene organization within RCCX modules. Serum C4 isotypes were assayed by enzyme-linked immunosorbent assay. The results revealed 12 different haplotypes of the C4/CYP21 gene cluster. Total functional activity of the classical pathway (CH50) was reduced in individuals carrying different genotypes because of low C4 concentrations (43% of all patients) to complete or partial C4 allotype deficiency. Thirteen of 54 patients presented recurrent infections affecting the respiratory and/or the urinary tracts, none of them with severe infections. Low C4A or C4B correlated well with RCCX mono-modular gene organization, but no association between C4 haplotypes and recurrent infections or autoimmunity was observed. Considering this redundant gene cluster, C4 seems to be a well-protected gene segment along the evolutionary process.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/19137635-10092831,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19137635-10207042,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/19137635-9341869
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1365-2249
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
155
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
182-8
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pubmed:dateRevised |
2010-9-22
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pubmed:meshHeading |
pubmed-meshheading:19137635-Adolescent,
pubmed-meshheading:19137635-Adrenal Hyperplasia, Congenital,
pubmed-meshheading:19137635-Autoimmune Diseases,
pubmed-meshheading:19137635-Child,
pubmed-meshheading:19137635-Child, Preschool,
pubmed-meshheading:19137635-Complement Activation,
pubmed-meshheading:19137635-Complement C4,
pubmed-meshheading:19137635-Female,
pubmed-meshheading:19137635-Genotype,
pubmed-meshheading:19137635-Haplotypes,
pubmed-meshheading:19137635-Humans,
pubmed-meshheading:19137635-Male,
pubmed-meshheading:19137635-Opportunistic Infections,
pubmed-meshheading:19137635-Phenotype,
pubmed-meshheading:19137635-Recurrence,
pubmed-meshheading:19137635-Steroid 21-Hydroxylase,
pubmed-meshheading:19137635-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.
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pubmed:affiliation |
Department of Pediatrics, Faculty of Medical Sciences, University of Campinas, UNICAMP, Campinas, SP 13083-970, Brazil. gilguer@fcm.unicamp.br
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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