Literature DB >> 17414409

A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis.

Ozden Sanal1, Gulten Turkkani, Fatma Gumruk, Leman Yel, Gulten Secmeer, Ilhan Tezcan, Ates Kara, Fugen Ersoy.   

Abstract

Interleukin-12 receptor beta-1 (IL-12Rbeta1) defect is generally associated with selective susceptibility to weakly pathogenic mycobacteria and Salmonella species. Patients rarely experience infections caused by other organisms. We report a 5-year-old patient with IL-12Rbeta1 deficiency who developed recurrent visceral leishmaniasis 6 months apart. The patient responded to lyposomal amphotericin B treatment reasonably well.

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Year:  2007        PMID： 17414409     DOI： 10.1097/01.inf.0000258696.64507.0f

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


  15 in total

1.  Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan.

Authors:  Takayuki Hoshina; Hidetoshi Takada; Yuka Sasaki-Mihara; Koichi Kusuhara; Koichi Ohshima; Satoshi Okada; Masao Kobayashi; Osamu Ohara; Toshiro Hara
Journal:  J Clin Immunol       Date:  2011-01-08       Impact factor: 8.317

Review 2.  Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.

Authors:  Kathleen E Sullivan; Hamid Bassiri; Ahmed A Bousfiha; Beatriz T Costa-Carvalho; Alexandra F Freeman; David Hagin; Yu L Lau; Michail S Lionakis; Ileana Moreira; Jorge A Pinto; M Isabel de Moraes-Pinto; Amit Rawat; Shereen M Reda; Saul Oswaldo Lugo Reyes; Mikko Seppänen; Mimi L K Tang
Journal:  J Clin Immunol       Date:  2017-08-07       Impact factor: 8.317

Review 3.  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

4.  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

Review 5.  Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.

Authors:  Jacinta Bustamante; Capucine Picard; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Ann N Y Acad Sci       Date:  2011-12       Impact factor: 5.691

6.  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 7.  Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.

Authors:  Hui-Qi Qu; Susan P Fisher-Hoch; Joseph B McCormick
Journal:  Int J Infect Dis       Date:  2011-02-16       Impact factor: 3.623

Review 8.  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

9.  IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.

Authors:  Stéphanie Boisson-Dupuis; Jamila El Baghdadi; Nima Parvaneh; Aziz Bousfiha; Jacinta Bustamante; Jacqueline Feinberg; Arina Samarina; Audrey V Grant; Lucile Janniere; Naima El Hafidi; Amal Hassani; Daniel Nolan; Jilali Najib; Yildiz Camcioglu; Nevin Hatipoglu; Cigdem Aydogmus; Gonul Tanir; Caner Aytekin; Melike Keser; Ayper Somer; Guside Aksu; Necil Kutukculer; Davood Mansouri; Alireza Mahdaviani; Setareh Mamishi; Alexandre Alcais; Laurent Abel; Jean-Laurent Casanova
Journal:  PLoS One       Date:  2011-04-13       Impact factor: 3.240

Review 10.  ICON: the early diagnosis of congenital immunodeficiencies.

Authors:  John Routes; Mario Abinun; Waleed Al-Herz; Jacinta Bustamante; Antonio Condino-Neto; Maria Teresa De La Morena; Amos Etzioni; Eleonora Gambineri; Elie Haddad; Lisa Kobrynski; Francoise Le Deist; Shigeaki Nonoyama; Joao Bosco Oliveira; Elena Perez; Capucine Picard; Nima Rezaei; John Sleasman; Kathleen E Sullivan; Troy Torgerson
Journal:  J Clin Immunol       Date:  2014-03-12       Impact factor: 8.542
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