Deficiency of somatic hypermutation of the antibody light chain is associated with increased frequency of severe respiratory tract infection in common variable immunodeficiency.

Blood
Pernille AndersenTorben Barington

Abstract

Reduced levels of somatic hypermutation (SHM) have recently been described in IgG-switched immunoglobulin genes in a minority of patients with common variable immunodeficiency (CVID), demonstrating a disruption of the normal linkage between isotype switch and SHM. To see if, irrespective of isotype, there is a tendency to use unmutated immunoglobulin genes in CVID, we studied SHM in kappa light-chain transcripts using a VkappaA27-specific restriction enzyme-based hot-spot mutation assay (IgkappaREHMA). Hot-spot mutations were found in 48% (median; reference interval, 28%-62%) of transcripts from 53 healthy controls. Values were significantly lower in 31 patients (median, 7.5%; range, 0%-73%; P < .0000001) of whom 24 (77%) had levels below the reference interval. Low levels of SHM correlated with increased frequency of severe respiratory tract infection (SRTI; P < .005), but not with diarrhea (P = .8). Mannose-binding lectin (MBL) deficiency also correlated with SRTI score (P = .009). However, the correlation of SHM and SRTI was also seen when only patients with normal MBL genotypes were analyzed (n = 18, P = .006). A slight decline of mutated fractions over years was noted (P = .01). This suggests that most patients with CVID f...Continue Reading

References

Dec 1, 1992·European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics·P GarredA Svejgaard
Oct 1, 1988·Immunological Reviews·C Berek, C Milstein
Apr 1, 1987·Immunological Reviews·C Berek, C Milstein
Jan 1, 1981·Journal of Clinical Immunology·S Cunningham-RundlesR A Good
Feb 1, 1994·Clinical and Experimental Immunology·E W HerbstH H Peter
Apr 1, 1997·The Journal of Clinical Investigation·S J FosterP E Lipsky
Jul 1, 1997·Clinical Immunology and Immunopathology·M B MajoliniC T Baldari
Oct 28, 1998·Proceedings of the National Academy of Sciences of the United States of America·Y LevyC A Reynaud
Mar 30, 1999·Mutation Research·R S HarrisN Maizels
Jul 22, 1999·Clinical Immunology : the Official Journal of the Clinical Immunology Society·C Cunningham-Rundles, C Bodian
Oct 30, 1999·European Journal of Immunology·S J FosterP E Lipsky
Dec 22, 1999·Clinical Immunology : the Official Journal of the Clinical Immunology Society·M E ConleyA Etzioni
May 4, 2000·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·M S NeubergerC Milstein
Sep 29, 2000·European Journal of Immunology·J C BrouetB Royer
Oct 18, 2000·The Journal of Immunology : Official Journal of the American Association of Immunologists·D BonhommeY Levy
Feb 24, 2001·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·U StorbN Kim
Feb 24, 2001·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·J E SaleM S Neuberger
Mar 3, 2001·Current Opinion in Immunology·H Jacobs, L Bross
Mar 20, 2001·JAMA : the Journal of the American Medical Association·A KochP Garred
Mar 27, 2001·Respiratory Medicine·M A Martínez GarcíaM Perpiñá Tordera
May 15, 2001·International Journal of Molecular Medicine·T SawabeS Nakano
Mar 14, 2002·American Journal of Hematology·C Cunningham-RundlesJames Strauchen
Mar 15, 2002·Current Allergy and Asthma Reports·C Cunningham-Rundles
Apr 10, 2002·The Journal of Allergy and Clinical Immunology·Mark Ballow
May 4, 2002·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Kazunaga AgematsuHans D Ochs
Jun 5, 2002·Molecular Immunology·Hermann J Girschick, Peter E Lipsky
Jun 14, 2002·The Journal of Allergy and Clinical Immunology·Paula Jane BusseCharlotte Cunningham-Rundles
Jun 29, 2002·Current Opinion in Immunology·Rudolf A ManzAndreas Radbruch

❮ Previous
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Citations

May 2, 2009·Clinical and Experimental Medicine·Asghar AghamohammadiAli Akbar Amirzargar
Aug 11, 2006·Current Allergy and Asthma Reports·Rima RachidFrancisco A Bonilla
Oct 6, 2007·Immunologic Research·Charlotte Cunningham-Rundles, Adina Kay Knight
Oct 6, 2007·Immunologic Research·Emanuela Castigli, Raif S Geha
Aug 12, 2009·Proceedings of the National Academy of Sciences of the United States of America·Mirzokhid RakhmanovKlaus Warnatz
Feb 22, 2007·The Journal of Experimental Medicine·Menno C van ZelmJacques J M van Dongen
Nov 9, 2010·The Pediatric Infectious Disease Journal·Maaike A KustersEsther de Vries
Oct 10, 2012·Arthritis Research & Therapy·Ulrich SalzerHans Hartmut Peter
Apr 22, 2014·Autoimmunity Reviews·Xiao XiaoXiong Ma
Apr 29, 2014·Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America·Lene Fogt LundboThomas Benfield
Nov 2, 2011·Cellular and Molecular Life Sciences : CMLS·Mirjam van der BurgJacques J M van Dongen
Nov 3, 2005·Current Opinion in Allergy and Clinical Immunology·Sigune Goldacker, Klaus Warnatz
Nov 4, 2008·Current Opinion in Allergy and Clinical Immunology·John J LeeRaif S Geha
Mar 1, 2009·Expert Review of Clinical Immunology·Astrid Bergbreiter, Ulrich Salzer
Oct 17, 2013·Expert Review of Clinical Immunology·Yashwant Kumar, Alka Bhatia
May 19, 2010·Expert Review of Clinical Immunology·Sam Ahn, Charlotte Cunningham-Rundles
Aug 12, 2009·The Journal of Allergy and Clinical Immunology·Shradha Agarwal, Lloyd Mayer
May 1, 2007·Current Opinion in Genetics & Development·Alejandro A SchäfferBodo Grimbacher
May 11, 2005·Scandinavian Journal of Immunology·H K ThórarinsdóttirG J Arason
Jun 21, 2005·Scandinavian Journal of Immunology·L Ohm-LaursenT Barington
Nov 21, 2007·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Koji FukushimaTooru Shimosegawa
Sep 25, 2014·Clinical and Experimental Immunology·M-L MetzgerU Salzer
Jul 22, 2014·Clinical and Experimental Immunology·E J H SchatorjéE de Vries
Oct 7, 2006·Seminars in Immunology·Ulrich Salzer, Bodo Grimbacher
Jul 6, 2005·Trends in Molecular Medicine·Jagadeesh BayrySrini V Kaveri
Aug 28, 2015·Science Translational Medicine·Krishna M RoskinScott D Boyd
Apr 2, 2015·The Pediatric Infectious Disease Journal·Helene IngelsHanne V Marquart
Aug 28, 2014·The Journal of Allergy and Clinical Immunology·Ruud H J VerstegenMenno C van Zelm
Apr 25, 2006·The Journal of Allergy and Clinical Immunology·Emanuela Castigli, Raif S Geha
Oct 27, 2016·Immunological Reviews·Peter GarredMikkel-Ole Skjoedt
May 26, 2017·Scandinavian Journal of Immunology·K P LundS S Sørensen
Oct 7, 2017·Current Allergy and Asthma Reports·María Belén Almejun, Mercedes Borge
Jan 30, 2007·Clinical Chemistry·Lone Schejbel, Peter Garred
Jan 21, 2006·The Journal of Immunology : Official Journal of the American Association of Immunologists·Charlotte Cunningham-RundlesAtsushi Nakazawa
Aug 28, 2020·Frontiers in Immunology·Kissy Guevara-HoyerSilvia Sánchez-Ramón
Dec 12, 2018·Frontiers in Immunology·Pauline A van SchouwenburgMirjam van der Burg
Dec 14, 2016·Immunity, Inflammation and Disease·Kristian AssingClaus Bistrup

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