Literature DB >> 24722855

Autosomal recessive agammaglobulinemia: the third case of Igβ deficiency due to a novel non-sense mutation.

Vassilios Lougaris1, Massimiliano Vitali, Manuela Baronio, Daniele Moratto, Giacomo Tampella, Augusto Biasini, Raffaele Badolato, Alessandro Plebani.   

Abstract

This study describes the third case worldwide of autosomal recessive agammaglobulinemia due to a novel non-sense mutation in Igβ presenting with neutropenia, ecthyma and mild respiratory infections.

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Year:  2014        PMID： 24722855     DOI： 10.1007/s10875-014-0033-4

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


  19 in total

Review 1.  Repertoire selection by pre-B-cell receptors and B-cell receptors, and genetic control of B-cell development from immature to mature B cells.

Authors:  F Melchers; E ten Boekel; T Seidl; X C Kong; T Yamagami; K Onishi; T Shimizu; A G Rolink; J Andersson
Journal:  Immunol Rev       Date:  2000-06       Impact factor: 12.988

Review 2.  B cell development: signal transduction by antigen receptors and their surrogates.

Authors:  R J Benschop; J C Cambier
Journal:  Curr Opin Immunol       Date:  1999-04       Impact factor: 7.486

3.  Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development.

Authors:  A Kerry Dobbs; Tianyu Yang; Dana Farmer; Leo Kager; Ornella Parolini; Mary Ellen Conley
Journal:  J Immunol       Date:  2007-08-15       Impact factor: 5.422

Review 4.  Genetic analysis of patients with defects in early B-cell development.

Authors:  Mary Ellen Conley; Arnon Broides; Vivian Hernandez-Trujillo; Vanessa Howard; Hirokazu Kanegane; Toshio Miyawaki; Sheila A Shurtleff
Journal:  Immunol Rev       Date:  2005-02       Impact factor: 12.988

5.  The roles of preB cell receptor in early B cell development and its signal transduction.

Authors:  H Karasuyama; T Nakamura; K Nagata; T Kuramochi; F Kitamura; K Kuida
Journal:  Immunol Cell Biol       Date:  1997-04       Impact factor: 5.126

6.  An essential role for BLNK in human B cell development.

Authors:  Y Minegishi; J Rohrer; E Coustan-Smith; H M Lederman; R Pappu; D Campana; A C Chan; M E Conley
Journal:  Science       Date:  1999-12-03       Impact factor: 47.728

7.  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

8.  Clinical and molecular analysis of patients with defects in micro heavy chain gene.

Authors:  Eduardo Lopez Granados; Andrea S Porpiglia; Mary Beth Hogan; Nuria Matamoros; Silvia Krasovec; Claudio Pignata; C I E Smith; Lennart Hammarstrom; Janne Bjorkander; Bernd H Belohradsky; G Fontan Casariego; M C Garcia Rodriguez; Mary Ellen Conley
Journal:  J Clin Invest       Date:  2002-10       Impact factor: 14.808

9.  Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia.

Authors:  Yue Wang; Hirokazu Kanegane; Ozden Sanal; Ilhan Tezcan; Fügen Ersoy; Takeshi Futatani; Toshio Miyawaki
Journal:  Am J Med Genet       Date:  2002-04-01

10.  Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

Authors:  Mary Ellen Conley; A Kerry Dobbs; Anita M Quintana; Amma Bosompem; Yong-Dong Wang; Elaine Coustan-Smith; Amber M Smith; Elena E Perez; Peter J Murray
Journal:  J Exp Med       Date:  2012-02-20       Impact factor: 14.307
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  1 in total

Review 1.  Agammaglobulinemia: from X-linked to Autosomal Forms of Disease.

Authors:  Melissa Cardenas-Morales; Vivian P Hernandez-Trujillo
Journal:  Clin Rev Allergy Immunol       Date:  2021-07-09       Impact factor: 10.817
  1 in total

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