Literature DB >> 11368122

Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency.

G Aksu1, C Tirpan, C Cavuşoğlu, S Soydan, F Altare, J L Casanova, N Kutukculer.   

Abstract

A 10-year-old boy had chronic diarrhea, abdominal pain, severe weight loss and hepatomegaly; multiple enlarged para-aortic and mesenteric lymph nodes. Mycobacterium fortuitum-chelonae complex was identified in the culture of the lymph nodes. Interleukin-12 receptor beta 1 expression could not be observed in phytohemagglutinin-driven T cell blasts. A homozygous missense interleukin-12 receptor beta 1 mutation was found (R173P).

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Year:  2001        PMID： 11368122     DOI： 10.1097/00006454-200105000-00021

Source DB:  PubMed          Journal:  Pediatr Infect Dis J        ISSN： 0891-3668            Impact factor:   2.129


  17 in total

1.  Severe mycobacterial infections in two pairs of Chinese siblings with interleukin-12 receptor beta1 deficiency.

Authors:  P P W Lee; L P Jiang; X C Wang; K W Chan; W W Tu; Y L Lau
Journal:  Eur J Pediatr       Date:  2007-03-27       Impact factor: 3.183

2.  Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

Authors:  Capucine Picard; Claire Fieschi; Frédéric Altare; Suliman Al-Jumaah; Sami Al-Hajjar; Jacqueline Feinberg; Stéphanie Dupuis; Claire Soudais; Ibrahim Zaid Al-Mohsen; Emmanuelle Génin; David Lammas; Dinakantha S Kumararatne; Tony Leclerc; Arash Rafii; Husn Frayha; Belinda Murugasu; Lee Bee Wah; Raja Sinniah; Michael Loubser; Emi Okamoto; Abdulaziz Al-Ghonaium; Haysam Tufenkeji; Laurent Abel; Jean-Laurent Casanova
Journal:  Am J Hum Genet       Date:  2001-12-17       Impact factor: 11.025

Review 3.  Genetic variations in the interleukin-12/interleukin-23 receptor (beta1) chain, and implications for IL-12 and IL-23 receptor structure and function.

Authors:  Esther van de Vosse; Elgin G R Lichtenauer-Kaligis; Jaap T van Dissel; Tom H M Ottenhoff
Journal:  Immunogenetics       Date:  2003-02-21       Impact factor: 2.846

4.  Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12/-23 receptor beta1 deficiency.

Authors:  E van de Vosse; T H M Ottenhoff; R A de Paus; E M Verhard; T de Boer; J T van Dissel; T W Kuijpers
Journal:  Infection       Date:  2010-03-05       Impact factor: 3.553

Review 5.  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 6.  The monogenic basis of human tuberculosis.

Authors:  Stephanie Boisson-Dupuis
Journal:  Hum Genet       Date:  2020-02-13       Impact factor: 4.132

7.  Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency.

Authors:  C Aytekin; F Dogu; N Tuygun; G Tanir; D Guloglu; S Boisson-Dupuis; J Bustamante; J Feinberg; J L Casanova; A Ikinciogullari
Journal:  J Investig Allergol Clin Immunol       Date:  2011       Impact factor: 4.333

8.  Variable outcome of experimental interferon-gamma therapy of disseminated Bacillus Calmette-Guerin infection in two unrelated interleukin-12Rbeta1-deficient Slovakian children.

Authors:  Timo Ulrichs; Claire Fieschi; Eva Nevicka; Helmut Hahn; Martin Brezina; Stefan H E Kaufmann; Jean-Laurent Casanova; Klara Frecerova
Journal:  Eur J Pediatr       Date:  2005-01-05       Impact factor: 3.183

Review 9.  Infections in patients with inherited defects in phagocytic function.

Authors:  Timothy Andrews; Kathleen E Sullivan
Journal:  Clin Microbiol Rev       Date:  2003-10       Impact factor: 26.132

Review 10.  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
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