Linked Life Data

11035117

Source:http://linkedlifedata.com/resource/pubmed/id/11035117

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2000-10-24
pubmed:abstractText
Common variable immunodeficiency (CVID) is an heterogeneous syndrome characterized by decreased levels of serum Ig and recurrent bacterial infection. Here, we were interested to study whether a qualitative defect of the affinity Ab maturation process could be combined to the low level of serum Ig in a cohort of 38 CVID patients. For this, we designed a novel and rapid screening test for the detection of hypomutated V gene expressed by memory B cells. This test delineated a subset of 9/38 (23%) CVID patients with an abnormal pattern of Ig V gene mutation. The mean frequency of V gene mutation of this subset was significantly lower (1.74%) compared with other CVID patients (5.46%) and normal donors (6.5%) (p<0.0001). The mean age of this subgroup was significantly higher than other hypogammaglobulinemic patients with normal levels of V gene mutation (p<0.02), whereas no difference in the duration of symptoms was noted between the two groups. This suggests that hypomutation characterizes patients who began CVID late in life. Recently, it was shown that non-Ig sequences, such as the intronic BCL-6 gene, could be the target of the somatic hypermutation process in normal memory B cells. Our finding of a normal mutation frequency of the BCL-6 gene in two hypomutated CVID point to a defect of the Ig targeting of hypermutation machinery in these cases.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0022-1767
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
165
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
4725-30
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:11035117-Adult, pubmed-meshheading:11035117-Aged, pubmed-meshheading:11035117-Alanine, pubmed-meshheading:11035117-Antibody Affinity, pubmed-meshheading:11035117-B-Lymphocyte Subsets, pubmed-meshheading:11035117-Clone Cells, pubmed-meshheading:11035117-Codon, pubmed-meshheading:11035117-Common Variable Immunodeficiency, pubmed-meshheading:11035117-Consensus Sequence, pubmed-meshheading:11035117-DNA Mutational Analysis, pubmed-meshheading:11035117-DNA-Binding Proteins, pubmed-meshheading:11035117-Genes, Immunoglobulin, pubmed-meshheading:11035117-Humans, pubmed-meshheading:11035117-Immunoglobulin Constant Regions, pubmed-meshheading:11035117-Immunoglobulin G, pubmed-meshheading:11035117-Immunoglobulin Heavy Chains, pubmed-meshheading:11035117-Immunoglobulin Variable Region, pubmed-meshheading:11035117-Immunologic Memory, pubmed-meshheading:11035117-Middle Aged, pubmed-meshheading:11035117-Mutation, pubmed-meshheading:11035117-Proto-Oncogene Proteins, pubmed-meshheading:11035117-Proto-Oncogene Proteins c-bcl-6, pubmed-meshheading:11035117-Serine, pubmed-meshheading:11035117-Transcription, Genetic, pubmed-meshheading:11035117-Transcription Factors
pubmed:year
2000
pubmed:articleTitle
Impaired antibody affinity maturation process characterizes a subset of patients with common variable immunodeficiency.
pubmed:affiliation
Institut National de la Santé et de la Recherche Médicale Unit 474. Hôpital Henri Mondor, Créteil, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't