Literature DB >> 24114017

IL-12Rβ1 deficiency and disseminated Mycobacterium tilburgii disease.

Kinda Schepers1, Liliane Schandené, Jacinta Bustamante, Jean-Paul Van Vooren, Maylis de Suremain, Jean-Laurent Casanova, Jean Cyr Yombi, Frédérique Jacobs, Françoise Mascart, Jean-Christophe Goffard.   

Abstract

Mycobacterium tilburgii rarely causes disseminated disease. We describe a case of M. tilburgii infection in an otherwise healthy 33-year-old woman, who was found to carry bi-allelic mutations of the gene encoding the β1 chain of the IL-12 receptor.

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Year:  2013        PMID： 24114017     DOI： 10.1007/s10875-013-9941-y

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


  17 in total

1.  Detection, identification, and treatment of a novel, non-cultivable Mycobacterium species in an HIV patient.

Authors:  E Richter; S Rüsch-Gerdes; S Niemann; A Stoehr; A Plettenberg
Journal:  AIDS       Date:  2000-07-28       Impact factor: 4.177

2.  Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

Authors:  Jacinta Bustamante; Andres A Arias; Guillaume Vogt; Capucine Picard; Lizbeth Blancas Galicia; Carolina Prando; Audrey V Grant; Christophe C Marchal; Marjorie Hubeau; Ariane Chapgier; Ludovic de Beaucoudrey; Anne Puel; Jacqueline Feinberg; Ethan Valinetz; Lucile Jannière; Céline Besse; Anne Boland; Jean-Marie Brisseau; Stéphane Blanche; Olivier Lortholary; Claire Fieschi; Jean-François Emile; Stéphanie Boisson-Dupuis; Saleh Al-Muhsen; Bruce Woda; Peter E Newburger; Antonio Condino-Neto; Mary C Dinauer; Laurent Abel; Jean-Laurent Casanova
Journal:  Nat Immunol       Date:  2011-01-30       Impact factor: 25.606

3.  "Mycobacterium tilburgii" infection in two immunocompromised children: importance of molecular tools in culture-negative mycobacterial disease diagnosis.

Authors:  Nico G Hartwig; Adilia Warris; Esther van de Vosse; Adri G M van der Zanden; Tanja Schülin-Casonato; Jakko van Ingen; Rob van Hest
Journal:  J Clin Microbiol       Date:  2011-10-19       Impact factor: 5.948

4.  Localized pulmonary infection associated with Mycobacterium tilburgii in an HIV-infected patient.

Authors:  M Kolditz; M Halank; P Spornraft-Ragaller; H Schmidt; G Höffken
Journal:  Infection       Date:  2005-08       Impact factor: 3.553

5.  Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.

Authors:  Dusan Bogunovic; Minji Byun; Larissa A Durfee; Avinash Abhyankar; Ozden Sanal; Davood Mansouri; Sandra Salem; Irena Radovanovic; Audrey V Grant; Parisa Adimi; Nahal Mansouri; Satoshi Okada; Vanessa L Bryant; Xiao-Fei Kong; Alexandra Kreins; Marcela Moncada Velez; Bertrand Boisson; Soheila Khalilzadeh; Ugur Ozcelik; Ilad Alavi Darazam; John W Schoggins; Charles M Rice; Saleh Al-Muhsen; Marcel Behr; Guillaume Vogt; Anne Puel; Jacinta Bustamante; Philippe Gros; Jon M Huibregtse; Laurent Abel; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova
Journal:  Science       Date:  2012-08-02       Impact factor: 47.728

6.  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

7.  Treatment of disseminated mycobacterial infection with high-dose IFN-γ in a patient with IL-12Rβ1 deficiency.

Authors:  Abdullah A Alangari; Fahad Al-Zamil; Abdulrahman Al-Mazrou; Saleh Al-Muhsen; Stéphanie Boisson-Dupuis; Sitalbanat Awadallah; Abdelmageed Kambal; Jean-Laurent Casanova
Journal:  Clin Dev Immunol       Date:  2010-12-22

8.  "Mycobacterium tilburgii" infections.

Authors:  Dirk Wagner; Margreet Vos; Anton G M Buiting; Annerose Serr; Anneke M C Bergmans; Winfried Kern; Leo M Schouls
Journal:  Emerg Infect Dis       Date:  2006-03       Impact factor: 6.883

9.  Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.

Authors:  Waleed Al-Herz; Aziz Bousfiha; Jean-Laurent Casanova; Helen Chapel; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Alain Fischer; Jose Luis Franco; Raif S Geha; Lennart Hammarström; Shigeaki Nonoyama; Luigi Daniele Notarangelo; Hans Dieter Ochs; Jennifer M Puck; Chaim M Roifman; Reinhard Seger; Mimi L K Tang
Journal:  Front Immunol       Date:  2011-11-08       Impact factor: 7.561

10.  Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.

Authors:  Claire Fieschi; Stéphanie Dupuis; Emilie Catherinot; Jacqueline Feinberg; Jacinta Bustamante; Adrien Breiman; Frédéric Altare; Richard Baretto; Françoise Le Deist; Samer Kayal; Hartmut Koch; Darko Richter; Martin Brezina; Guzide Aksu; Phil Wood; Suliman Al-Jumaah; Miquel Raspall; Alberto José Da Silva Duarte; David Tuerlinckx; Jean-Louis Virelizier; Alain Fischer; Andrea Enright; Jutta Bernhöft; Aileen M Cleary; Christiane Vermylen; Carlos Rodriguez-Gallego; Graham Davies; Renate Blütters-Sawatzki; Claire-Anne Siegrist; Mohammad S Ehlayel; Vas Novelli; Walther H Haas; Jacob Levy; Joachim Freihorst; Sami Al-Hajjar; David Nadal; Dewton De Moraes Vasconcelos; Olle Jeppsson; Necil Kutukculer; Klara Frecerova; Isabel Caragol; David Lammas; Dinakantha S Kumararatne; Laurent Abel; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2003-02-17       Impact factor: 14.307
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  7 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

2.  Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.

Authors:  Rubén Martínez-Barricarte; Orli Megged; Polina Stepensky; Pierre Casimir; Marcela Moncada-Velez; Diana Averbuch; Marc Victor Assous; Omar Abuzaitoun; Xiao-Fei Kong; Vincent Pedergnana; Caroline Deswarte; Mélanie Migaud; Stefan Rose-John; Yuval Itan; Bertrand Boisson; Aziz Belkadi; Francesca Conti; Laurent Abel; Guillaume Vogt; Stephanie Boisson-Dupuis; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  J Clin Immunol       Date:  2014-08-19       Impact factor: 8.317

3.  Disseminated infection with Mycobacterium tilburgii in a male immunocompromised patient.

Authors:  Sarah Temmerman; Linos Vandekerckhove; Erica Sermijn; Dirk Vogelaers; Geert Claeys; Mario Vaneechoutte; Piet Cools; Steven Callens
Journal:  J Clin Microbiol       Date:  2014-02-12       Impact factor: 5.948

4.  Functional Immune Reconstitution by Interleukin-2 Adjunctive Therapy for HIV/Mycobacterial Co-infection.

Authors:  Jan Heyckendorf; Sven Philip Aries; Ulf Greinert; Elvira Richter; Holger Schultz; Christoph Lange
Journal:  Emerg Infect Dis       Date:  2015-09       Impact factor: 6.883

5.  Evaluation of IL-12RB1, IL-12B, CXCR-3 and IL-17a expression in cases affected by a non-healing form of cutaneous leishmaniasis: an observational study design.

Authors:  Mohammad Moafi; Hossein Rezvan; Roya Sherkat; Roya Taleban; Ali Asilian; Seyed Hamid Zarkesh Esfahani; Mohammad Ali Nilforoushzadeh; Fariba Jaffary; Awat Feizi
Journal:  BMJ Open       Date:  2017-01-27       Impact factor: 2.692

6.  Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression.

Authors:  Thais Louvain de Souza; Regina C de Souza Campos Fernandes; Juliana Azevedo da Silva; Vladimir Gomes Alves Júnior; Adelia Gomes Coelho; Afonso C Souza Faria; Nabia M Moreira Salomão Simão; João T Souto Filho; Caroline Deswarte; Stéphanie Boisson-Dupuis; Dara Torgerson; Jean-Laurent Casanova; Jacinta Bustamante; Enrique Medina-Acosta
Journal:  Front Microbiol       Date:  2017-04-13       Impact factor: 5.640

Review 7.  A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Authors:  Jérémie Rosain; Carmen Oleaga-Quintas; Caroline Deswarte; Hannah Verdin; Stéphane Marot; Garyfallia Syridou; Mahboubeh Mansouri; S Alireza Mahdaviani; Edna Venegas-Montoya; Maria Tsolia; Mehrnaz Mesdaghi; Liudmyla Chernyshova; Yuriy Stepanovskiy; Nima Parvaneh; Davood Mansouri; Sigifredo Pedraza-Sánchez; Anastasia Bondarenko; Sara E Espinosa-Padilla; Marco A Yamazaki-Nakashimada; Alejandro Nieto-Patlán; Gaspard Kerner; Nathalie Lambert; Corinne Jacques; Emilie Corvilain; Mélanie Migaud; Virginie Grandin; María T Herrera; Fabienne Jabot-Hanin; Stéphanie Boisson-Dupuis; Capucine Picard; Patrick Nitschke; Anne Puel; Frederic Tores; Laurent Abel; Lizbeth Blancas-Galicia; Elfride De Baere; Christine Bole-Feysot; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  J Clin Immunol       Date:  2018-07-11       Impact factor: 8.317
  7 in total

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