Literature DB >> 22042269

New frontiers of primary antibody deficiencies.

Mirjam van der Burg1, Menno C van Zelm, Gertjan J A Driessen, Jacques J M van Dongen.   

Abstract

Primary antibody deficiencies (PAD) form the largest group of inherited disorders of the immune system. They are characterized by a marked reduction or absence of serum immunoglobulins (Ig) due to disturbed B cell differentiation and by a poor response to vaccination. PAD can be divided into agammaglobulinemia, Ig class switch recombination deficiencies, and idiopathic hypogammaglobulinemia. Over the past 20 years, defects have been identified in 18 different genes, but in many PAD patients the underlying gene defects have not been found. Diagnosis of known PAD and discovery of new PAD is important for good patient care. In this review, we present the effects of genetic defects in the context of normal B cell differentiation, and we discuss how new technical developments can support understanding and discovering new genetic defects in PAD.

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Year:  2011        PMID： 22042269     DOI： 10.1007/s00018-011-0836-x

Source DB:  PubMed          Journal:  Cell Mol Life Sci        ISSN： 1420-682X            Impact factor:   9.261


  132 in total

1.  Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice.

Authors:  Cristina Rada; Gareth T Williams; Hilde Nilsen; Deborah E Barnes; Tomas Lindahl; Michael S Neuberger
Journal:  Curr Biol       Date:  2002-10-15       Impact factor: 10.834

2.  Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.

Authors:  L Yel; Y Minegishi; E Coustan-Smith; R H Buckley; H Trübel; L M Pachman; G R Kitchingman; D Campana; J Rohrer; M E Conley
Journal:  N Engl J Med       Date:  1996-11-14       Impact factor: 91.245

3.  CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency.

Authors:  Menno C van Zelm; Julie Smet; Brigitte Adams; Françoise Mascart; Liliane Schandené; Françoise Janssen; Alina Ferster; Chiung-Chi Kuo; Shoshana Levy; Jacques J M van Dongen; Mirjam van der Burg
Journal:  J Clin Invest       Date:  2010-03-08       Impact factor: 14.808

4.  Pre-B cell receptor signaling mediates selective response to IL-7 at the pro-B to pre-B cell transition via an ERK/MAP kinase-dependent pathway.

Authors:  H E Fleming; C J Paige
Journal:  Immunity       Date:  2001-10       Impact factor: 31.745

5.  A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia.

Authors:  P Revy; M Busslinger; K Tashiro; F Arenzana; P Pillet; A Fischer; A Durandy
Journal:  Pediatrics       Date:  2000-03       Impact factor: 7.124

6.  Perinatal lethality and blocked B-cell development in mice lacking the tyrosine kinase Syk.

Authors:  M Turner; P J Mee; P S Costello; O Williams; A A Price; L P Duddy; M T Furlong; R L Geahlen; V L Tybulewicz
Journal:  Nature       Date:  1995-11-16       Impact factor: 49.962

7.  Failure of B-cell differentiation in mice lacking the transcription factor EBF.

Authors:  H Lin; R Grosschedl
Journal:  Nature       Date:  1995-07-20       Impact factor: 49.962

8.  Cloning and functional characterization of early B-cell factor, a regulator of lymphocyte-specific gene expression.

Authors:  J Hagman; C Belanger; A Travis; C W Turck; R Grosschedl
Journal:  Genes Dev       Date:  1993-05       Impact factor: 11.361

9.  A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early proB cell stage.

Authors:  E Meffre; F LeDeist; G de Saint-Basile; A Deville; M Fougereau; A Fischer; C Schiff
Journal:  J Clin Invest       Date:  1996-10-01       Impact factor: 14.808

10.  Novel mutations in a Japanese patient with CD19 deficiency.

Authors:  H Kanegane; K Agematsu; T Futatani; M M Sira; K Suga; T Sekiguchi; M C van Zelm; T Miyawaki
Journal:  Genes Immun       Date:  2007-09-20       Impact factor: 2.676
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  5 in total

1.  The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database.

Authors:  E J H Schatorjé; B Gathmann; R W N M van Hout; E de Vries
Journal:  Clin Exp Immunol       Date:  2014-06       Impact factor: 4.330

2.  B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.

Authors:  Elisabeth Salzer; Elisangela Santos-Valente; Stefanie Klaver; Sol A Ban; Wolfgang Emminger; Nina Kathrin Prengemann; Wojciech Garncarz; Leonhard Müllauer; Renate Kain; Heidrun Boztug; Andreas Heitger; Klaus Arbeiter; Franz Eitelberger; Markus G Seidel; Wolfgang Holter; Arnold Pollak; Winfried F Pickl; Elisabeth Förster-Waldl; Kaan Boztug
Journal:  Blood       Date:  2013-01-14       Impact factor: 22.113

3.  EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System.

Authors:  Jacques J M van Dongen; Mirjam van der Burg; Tomas Kalina; Martin Perez-Andres; Ester Mejstrikova; Marcela Vlkova; Eduardo Lopez-Granados; Marjolein Wentink; Anne-Kathrin Kienzler; Jan Philippé; Ana E Sousa; Menno C van Zelm; Elena Blanco; Alberto Orfao
Journal:  Front Immunol       Date:  2019-06-13       Impact factor: 7.561

Review 4.  Good's Syndrome: Time to Move on From Reviewing the Past.

Authors:  Aunonna Kabir; Reza Alizadehfar; Christos M Tsoukas
Journal:  Front Immunol       Date:  2022-01-12       Impact factor: 7.561

Review 5.  Genomic modulators of the immune response.

Authors:  Julian C Knight
Journal:  Trends Genet       Date:  2012-11-01       Impact factor: 11.639
  5 in total

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