Darlow, J.M., Farrell, A.M. and Stott, D.I. (2004) Non-functional immunoglobulin G transcripts in a case of hyper-immunoglobulin M syndrome similar to type 4. Immunology, 111(2), pp. 212-222. (doi: 10.1111/j.0019-2805.2003.01790.x)
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Abstract
86% of immunoglobulin G (IgG) heavy-chain gene transcripts were found to be non-functional in the peripheral blood B cells of a patient initially diagnosed with common variable immunodeficiency, who later developed raised IgM, whereas no non-functionally rearranged transcripts were found in the cells of seven healthy control subjects. All the patient's IgM heavy-chain and κ light-chain transcripts were functional, suggesting that either non-functional rearrangements were being selectively class-switched to IgG, or that receptor editing was rendering genes non-functional after class-switching. The functional γ-chain sequences showed a normal rate of somatic hypermutation while non-functional sequences contained few somatic mutations, suggesting that most came from cells that had no functional gene and therefore were not receiving signals for hypermutation. However, apoptosis of peripheral blood lymphocytes was not impaired. No defects have been found in any of the genes currently known to be responsible for hyper-IgM syndrome but the phenotype fits best to type 4.
Item Type: | Articles |
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Additional Information: | © Blackwell. The definitive version is available at www.blackwell-synergy.com |
Keywords: | Hyper-IgM type 4, common variable immunodeficiency, non-functional IgG, somatic hypermutation, class-switch recombination, receptor revision. |
Status: | Published |
Refereed: | Yes |
Glasgow Author(s) Enlighten ID: | Stott I, Professor David |
Authors: | Darlow, J.M., Farrell, A.M., and Stott, D.I. |
Subjects: | Q Science > QR Microbiology > QR180 Immunology |
College/School: | College of Medical Veterinary and Life Sciences > School of Infection & Immunity |
Journal Name: | Immunology |
Publisher: | Blackwell |
ISSN: | 0019-2805 |
Copyright Holders: | Copyright © 2004 Blackwell |
First Published: | First published in Immunology 111(2):212-222 |
Publisher Policy: | Reproduced in accordance with the copyright policy of the publisher. |
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