Literature DB >> 11544001

Human genetic defects in class-switch recombination (hyper-IgM syndromes).

A Durandy1, T Honjo.   

Abstract

Several genetic defects in class-switch recombination, leading to hyper-IgM syndromes, have been recently described in humans. Besides the well-known role of interaction between CD40-ligand and CD40, these pathological conditions definitively demonstrate the requirement of CD40-mediated NF-kappaB activation and the essential role of a newly described molecule, activation-induced cytidine deaminase (AID), in B cell terminal differentiation.

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Year:  2001        PMID： 11544001     DOI： 10.1016/s0952-7915(00)00256-9

Source DB:  PubMed          Journal:  Curr Opin Immunol        ISSN： 0952-7915            Impact factor:   7.486


  18 in total

Review 1.  Somatic immunoglobulin hypermutation.

Authors:  Marilyn Diaz; Paolo Casali
Journal:  Curr Opin Immunol       Date:  2002-04       Impact factor: 7.486

2.  DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL.

Authors:  Mikhail B Litinskiy; Bernardetta Nardelli; David M Hilbert; Bing He; Andras Schaffer; Paolo Casali; Andrea Cerutti
Journal:  Nat Immunol       Date:  2002-08-05       Impact factor: 25.606

Review 3.  Translational Mini-Review Series on B Cell-Directed Therapies: B cell-directed therapy for autoimmune diseases.

Authors:  C Hu; F S Wong; L Wen
Journal:  Clin Exp Immunol       Date:  2009-08       Impact factor: 4.330

4.  Mutator effects and mutation signatures of editing deaminases produced in bacteria and yeast.

Authors:  A G Lada; C Frahm Krick; S G Kozmin; V I Mayorov; T S Karpova; I B Rogozin; Y I Pavlov
Journal:  Biochemistry (Mosc)       Date:  2011-01       Impact factor: 2.487

5.  Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair.

Authors:  Jian Kang; Roderick T Bronson; Yang Xu
Journal:  EMBO J       Date:  2002-03-15       Impact factor: 11.598

6.  X-linked hyper-IgM syndrome associated with poorly differentiated neuroendocrine tumor presenting as obstructive jaundice secondary to extensive adenopathy.

Authors:  Nandini Nagaraj; Chukwuma Egwim; Douglas G Adler
Journal:  Dig Dis Sci       Date:  2007-04-12       Impact factor: 3.199

7.  Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination.

Authors:  Kohsuke Imai; Nadia Catalan; Alessandro Plebani; László Maródi; Ozden Sanal; Satoru Kumaki; Vasantha Nagendran; Philip Wood; Catherine Glastre; Françoise Sarrot-Reynauld; Olivier Hermine; Monique Forveille; Patrick Revy; Alain Fischer; Anne Durandy
Journal:  J Clin Invest       Date:  2003-07       Impact factor: 14.808

Review 8.  Development of granulomatous common variable immunodeficiency subsequent to infection with Toxoplasma gondii.

Authors:  S Mrusek; A Marx; J Kummerle-Deschner; N Tzaribachev; A Enders; U-N Riede; K Warnatz; G E Dannecker; S Ehl
Journal:  Clin Exp Immunol       Date:  2004-09       Impact factor: 4.330

9.  Late stages of hematopoiesis and B cell lymphopoiesis are regulated by α-synuclein, a key player in Parkinson's disease.

Authors:  Wenbin Xiao; Afshin Shameli; Clifford V Harding; Howard J Meyerson; Robert W Maitta
Journal:  Immunobiology       Date:  2014-07-22       Impact factor: 3.144

10.  Memory B cells in common variable immunodeficiency: clinical associations and sex differences.

Authors:  Silvia Sánchez-Ramón; Lin Radigan; Joyce E Yu; Susan Bard; Charlotte Cunningham-Rundles
Journal:  Clin Immunol       Date:  2008-07-11       Impact factor: 3.969
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