Literature DB >> 15736007

Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis.

Namik Ozbek1, Claire Fieschi, Bafak T Yilmaz, Ludovic de Beaucoudrey, Beyhan Demirhan, Jacqueline Feinberg, Yunus Emre Bikmaz, Jean-Laurent Casanova.   

Abstract

An 11-year-old girl who presented with disseminated tuberculosis associated with secondary hemophagocytosis received a diagnosis of interleukin-12 receptor beta 1 chain deficiency. This diagnosis of immunodeficiency should, therefore, be considered for children with disseminated tuberculosis, even in the absence of any personal or familial history of prior infection by weakly pathogenic Salmonella and Mycobacterium species.

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Year:  2005        PMID: 15736007     DOI: 10.1086/427879

Source DB:  PubMed          Journal:  Clin Infect Dis        ISSN: 1058-4838            Impact factor:   9.079


  33 in total

1.  Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.

Authors:  Gonul Tanir; Figen Dogu; Nilden Tuygun; Aydan Ikinciogullari; Caner Aytekin; Cumhur Aydemir; Mutlu Yuksek; Esin Cengiz Boduroglu; Ludovic de Beaucoudrey; Claire Fieschi; Jacqueline Feinberg; Jean-Laurent Casanova; Emel Babacan
Journal:  Eur J Pediatr       Date:  2006-02-24       Impact factor: 3.183

2.  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

Review 3.  Human genetics of infectious diseases: a unified theory.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  EMBO J       Date:  2007-01-25       Impact factor: 11.598

4.  Tuberculosis in children and adults: two distinct genetic diseases.

Authors:  Alexandre Alcaïs; Claire Fieschi; Laurent Abel; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2005-12-19       Impact factor: 14.307

Review 5.  IL-12 and IL-23 cytokines: from discovery to targeted therapies for immune-mediated inflammatory diseases.

Authors:  Michele W L Teng; Edward P Bowman; Joshua J McElwee; Mark J Smyth; Jean-Laurent Casanova; Andrea M Cooper; Daniel J Cua
Journal:  Nat Med       Date:  2015-06-29       Impact factor: 53.440

6.  Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect.

Authors:  Sheela Nampoothiri; Surjit Singh; K N Parameswaran Nampoothiri; Stephanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Indian J Pediatr       Date:  2012-02-29       Impact factor: 1.967

7.  Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency.

Authors:  Payam Tabarsi; Majid Marjani; Nahal Mansouri; Parisa Farnia; Stephanie Boisson-Dupuis; Jacinta Bustamante; Laurent Abel; Parisa Adimi; Jean-Laurent Casanova; Davood Mansouri
Journal:  J Clin Immunol       Date:  2011-04-13       Impact factor: 8.317

8.  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 9.  A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.

Authors:  Un-In Wu; Steven M Holland
Journal:  Semin Immunopathol       Date:  2016-01-05       Impact factor: 9.623

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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