Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1995-10-12
|
| pubmed:abstractText |
Several individuals have been described whose neutrophils lack the normally abundantly expressed IgG Fc gamma receptor IIIb (Fc gamma RIIIb). We now studied the responsible genomic defect and analyzed the medical history in detail of 21 Fc gamma RIIIb-negative donors identified in 14 unrelated families. We developed a polymerase chain reaction allele-specific-primer annealing assay to genotype for the NA polymorphism of the Fc gamma RIIIB gene. All Fc gamma RIIIb-deficient individuals were negative for both the NA1 and the NA2 allele. In all cases the complete absence of the Fc gamma RIIIB alleles was confirmed using a Southern blot-based restriction fragment length polymorphism assay. Furthermore, an additional deletion of the next more telomeric located Fc gamma RIIC gene was found. Family studies showed that at least one Fc gamma RIIIB allele was absent in both parents in 6 families, whereas in 2 families the father had a normal phenotype. Two individuals suffered from an autoimmune thyroiditis. Four individuals had had multiple episodes of infection, 3 had only incidental infections, and 14 never had any serious infection. Genotyping showed a normal Fc gamma RIIa phenotype distribution among the Fc gamma RIIIb-negative individuals, thus excluding the possibility that the presence of the favorable IgG2-binding low-responder isoform of Fc gamma RIIa (131-H) contributed to the overall absence of recurrent bacterial infections.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
0006-4971
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
86
|
| pubmed:geneSymbol |
Fc&ggr;RIIIA,
Fc&ggr;RIIIB,
Fc&ggr;RIIIC,
NA1,
NA2
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
2403-13
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:7662988-Adolescent,
pubmed-meshheading:7662988-Adult,
pubmed-meshheading:7662988-Aged,
pubmed-meshheading:7662988-Alleles,
pubmed-meshheading:7662988-Base Sequence,
pubmed-meshheading:7662988-Blotting, Southern,
pubmed-meshheading:7662988-Disease Susceptibility,
pubmed-meshheading:7662988-Female,
pubmed-meshheading:7662988-Genes,
pubmed-meshheading:7662988-Humans,
pubmed-meshheading:7662988-Immunity, Maternally-Acquired,
pubmed-meshheading:7662988-Infant, Newborn,
pubmed-meshheading:7662988-Infection,
pubmed-meshheading:7662988-Isoantibodies,
pubmed-meshheading:7662988-Male,
pubmed-meshheading:7662988-Middle Aged,
pubmed-meshheading:7662988-Molecular Sequence Data,
pubmed-meshheading:7662988-Neutropenia,
pubmed-meshheading:7662988-Neutrophils,
pubmed-meshheading:7662988-Pedigree,
pubmed-meshheading:7662988-Polymerase Chain Reaction,
pubmed-meshheading:7662988-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:7662988-Pregnancy,
pubmed-meshheading:7662988-Receptors, IgG,
pubmed-meshheading:7662988-Thyroiditis, Autoimmune
|
| pubmed:year |
1995
|
| pubmed:articleTitle |
Neutrophil Fc gamma RIIIb deficiency, nature, and clinical consequences: a study of 21 individuals from 14 families.
|
| pubmed:affiliation |
Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, University of Amsterdam, The Netherlands.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|