Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome.
case_series · Level IV
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- Record sourced from PubMed, PMID 9789054.
- Also identified by PMC identifier 23736.
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Abstract
Common Variable Immuno-Deficiency (CVID) is the most common symptomatic primary antibody-deficiency syndrome, but the basic immunologic defects underlying this syndrome are not well defined. We report here that among eight patients studied (six CVID and two hypogammaglobulinemic patients with recurrent infections), there is in two CVID patients a dramatic reduction in Ig V gene somatic hypermutation with 40-75% of IgG transcripts totally devoid of mutations in the circulating memory B cell compartment. Functional assays of the T cell compartment point to an intrinsic B cell defect in the process of antibody affinity maturation in these two cases.
Medical subject headings
- B-Lymphocytes
- Common Variable Immunodeficiency
- Genes, Immunoglobulin
- Immunoglobulin Variable Region
- Point Mutation
- Transcription, Genetic