Source:http://linkedlifedata.com/resource/pubmed/id/10803838
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4-5
|
| pubmed:dateCreated |
2000-5-25
|
| pubmed:abstractText |
Expression of major histocompatibility complex (MHC) class II genes is controlled at the transcriptional level by at least four trans-acting genes, CIITA, RFXANK, RFX5, and RFXAP. Defects in these regulatory genes result in the absence of MHC class II molecule expression and, thereby, cause a combined immunodeficiency. MHC class II deficiency is inherited as an autosomal recessive trait. Since the first description of the disease, about 70 patients from 50 families have been reported. Forty-three of these families have been classified into four complementation groups: A, B, C, and D. In the largest group, B, the majority of patients are of North African origin. In two of these patients, the same mutation in the RFXANK gene (752delG-25) was identified. We performed a mutation analysis in 20 additional patients belonging to complementation group B and detected the 752delG-25 mutation in 17. All of these patients are of North African origin. A founder effect for this mutation was documented, since all tested patients, except one, display a common haplotype spanning the RFXANK locus.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0093-7711
|
| pubmed:author |
pubmed-author:AlcaideCC,
pubmed-author:BanHH,
pubmed-author:FischerAA,
pubmed-author:FondanecheM CMC,
pubmed-author:LambertNN,
pubmed-author:Lisowska-GrospierreBB,
pubmed-author:MasternakKK,
pubmed-author:NotarangeloLL,
pubmed-author:PicardCC,
pubmed-author:ReithWW,
pubmed-author:SchwartzKK,
pubmed-author:WiszniewskyGG,
pubmed-author:de Saint BasileGG
|
| pubmed:issnType |
Print
|
| pubmed:volume |
51
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
261-7
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:10803838-Africa, Northern,
pubmed-meshheading:10803838-Base Sequence,
pubmed-meshheading:10803838-Chromosomes, Human, Pair 19,
pubmed-meshheading:10803838-Consanguinity,
pubmed-meshheading:10803838-Female,
pubmed-meshheading:10803838-Founder Effect,
pubmed-meshheading:10803838-Genes, MHC Class II,
pubmed-meshheading:10803838-Genetic Complementation Test,
pubmed-meshheading:10803838-Haplotypes,
pubmed-meshheading:10803838-Histocompatibility Antigens Class II,
pubmed-meshheading:10803838-Humans,
pubmed-meshheading:10803838-Immunologic Deficiency Syndromes,
pubmed-meshheading:10803838-Male,
pubmed-meshheading:10803838-Microsatellite Repeats,
pubmed-meshheading:10803838-Molecular Sequence Data,
pubmed-meshheading:10803838-Pedigree,
pubmed-meshheading:10803838-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:10803838-Sequence Deletion,
pubmed-meshheading:10803838-Transcription Factors
|
| pubmed:year |
2000
|
| pubmed:articleTitle |
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.
|
| pubmed:affiliation |
INSERM U 429, Institut National de la Santé et de la Recherche Médicale, Hopital des Enfants Malades, Paris, France.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|