Literature DB >> 18940359

Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain.

Filomeen Haerynck1, Steve M Holland, Sergio D Rosenzweig, Jean-Laurent Casanova, Petra Schelstraete, Frans De Baets.   

Abstract

A girl with relapsing cervical lymphadenopathy due to Mycobacterium avium subsequently developed abdominal adenopathy and intestinal inflammation. 1 known (c.1623_1624delGCinsTT) and 1 novel mutation (c.65_68delCTGC of exon2) of the Interleukin-12 Receptor-beta1 (IL-12Rbeta1) gene was detected. Unlike reports of a more favorable outcome in these patients, our patient died of severe intestinal involvement.

Entities:  

Mesh：

Substances：

Year:  2008        PMID： 18940359     DOI： 10.1016/j.jpeds.2008.05.050

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  9 in total

Review 1.  Antimicrobial susceptibility testing, drug resistance mechanisms, and therapy of infections with nontuberculous mycobacteria.

Authors:  Barbara A Brown-Elliott; Kevin A Nash; Richard J Wallace
Journal:  Clin Microbiol Rev       Date:  2012-07       Impact factor: 26.132

2.  Mycobacterium avium complex cervical lymphadenitis in an immunocompetent adult.

Authors:  Joshua B Christensen; John Koeppe
Journal:  Clin Vaccine Immunol       Date:  2010-07-28

3.  Modulation of innate host factors by Mycobacterium avium complex in human macrophages includes interleukin 17.

Authors:  Nancy Vázquez; Sofia Rekka; Maria Gliozzi; Carl G Feng; Shoba Amarnath; Jan M Orenstein; Sharon M Wahl
Journal:  J Infect Dis       Date:  2012-08-28       Impact factor: 5.226

Review 4.  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

5.  Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.

Authors:  Sigifredo Pedraza; Jose Luis Lezana; Arina Samarina; Ruth Aldana; Maria Teresa Herrera; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Perle Pages; Jean-Laurent Casanova; Capucine Picard
Journal:  Pediatrics       Date:  2010-09-20       Impact factor: 7.124

Review 6.  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

7.  A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.

Authors:  J Yancoski; C Rocco; A Bernasconi; M Oleastro; L Bezrodnik; C Vrátnica; F Haerynck; S D Rosenzweig
Journal:  Infect Genet Evol       Date:  2009-03-09       Impact factor: 3.342

Review 8.  Linking Susceptibility to Infectious Diseases to Immune System Abnormalities among HIV-Exposed Uninfected Infants.

Authors:  Candice Ruck; Brian A Reikie; Arnaud Marchant; Tobias R Kollmann; Fatima Kakkar
Journal:  Front Immunol       Date:  2016-08-19       Impact factor: 7.561

9.  Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?

Authors:  Franziska Seidel; Kai Thorsten Laser; Karin Klingel; Josephine Dartsch; Simon Theisen; Thomas Pickardt; Manuel Holtgrewe; Anna Gärtner; Felix Berger; Dieter Beule; Hendrik Milting; Stephan Schubert; Sabine Klaassen; Jirko Kühnisch
Journal:  J Cardiovasc Dev Dis       Date:  2022-07-05
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.