Literature DB >> 22695533

Disseminated Mycobacterium genavense infection in a patient with a novel partial interleukin-12/23 receptor β1 deficiency.

Judith Potjewijd1, Roelof A de Paus, Annelies van Wengen, Jan Damoiseaux, Annelies Verbon, Esther van de Vosse.   

Abstract

A patient presented with late onset disseminated nontuberculous mycobacterium (NTM) infection due to a novel interleukin-12/interleukin-23 receptor β1 (IL-12/IL-23Rβ1) mutation, r.1561C>G, leading to the amino acid substitution R521G. This is the second patient reported with a partial IL-12/IL-23Rβ1 defect.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID： 22695533     DOI： 10.1016/j.clim.2012.05.007

Source DB:  PubMed          Journal:  Clin Immunol        ISSN： 1521-6616            Impact factor:   3.969


  4 in total

Review 1.  Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Authors:  Jacinta Bustamante; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Semin Immunol       Date:  2014-10-26       Impact factor: 11.130

Review 2.  IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

Authors:  Esther van de Vosse; Margje H Haverkamp; Noe Ramirez-Alejo; Mónica Martinez-Gallo; Lizbeth Blancas-Galicia; Ayşe Metin; Ben Zion Garty; Çağman Sun-Tan; Arnon Broides; Roelof A de Paus; Özlem Keskin; Deniz Çağdaş; Ilhan Tezcan; Encarna Lopez-Ruzafa; Juan I Aróstegui; Jacov Levy; Francisco J Espinosa-Rosales; Özden Sanal; Leopoldo Santos-Argumedo; Jean-Laurent Casanova; Stephanie Boisson-Dupuis; Jaap T van Dissel; Jacinta Bustamante
Journal:  Hum Mutat       Date:  2013-08-08       Impact factor: 4.878

3.  Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.

Authors:  Monia Ouederni; Ozden Sanal; Aydan Ikinciogullari; Ilhan Tezcan; Figen Dogu; Ithaisa Sologuren; Sigifredo Pedraza-Sánchez; Melike Keser; Gonul Tanir; Chris Nieuwhof; Elena Colino; Dinakantha Kumararatne; Jacov Levy; Necil Kutukculer; Caner Aytekin; Estefanía Herrera-Ramos; Micah Bhatti; Neslihan Karaca; Ridha Barbouche; Arnon Broides; Ekaterini Goudouris; José Luis Franco; Nima Parvaneh; Ismail Reisli; Alexis Strickler; Anna Shcherbina; Ayper Somer; Anthony Segal; Alfonso Angel-Moreno; José Luis Lezana-Fernandez; Mohamed Bejaoui; Miriam Bobadilla-Del Valle; Salem Kachboura; Timothy Sentongo; Imen Ben-Mustapha; Jacinta Bustamante; Capucine Picard; Anne Puel; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova; Carlos Rodríguez-Gallego
Journal:  Clin Infect Dis       Date:  2013-11-01       Impact factor: 9.079

4.  Mycobacterium genavense Infections in a Tertiary Hospital and Reviewed Cases in Non-HIV Patients.

Authors:  M Santos; A Gil-Brusola; A Escandell; M Blanes; M Gobernado
Journal:  Patholog Res Int       Date:  2014-02-19
  4 in total

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