Literature DB >> 17387515

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

P P W Lee1, L P Jiang, X C Wang, K W Chan, W W Tu, Y L Lau.   

Abstract

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Year:  2007        PMID： 17387515     DOI： 10.1007/s00431-007-0430-2

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  9 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.  Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections.

Authors:  Ozden Sanal; Tuba Turul; Tijtske De Boer; Esther Van de Vosse; Işik Yalcin; Ilhan Tezcan; Cağman Sun; L Memis; Tom H M Ottenhoff; Fugen Ersoy
Journal:  J Clin Immunol       Date:  2006-01       Impact factor: 8.317

3.  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

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

Authors:  Namik Ozbek; Claire Fieschi; Bafak T Yilmaz; Ludovic de Beaucoudrey; Beyhan Demirhan; Jacqueline Feinberg; Yunus Emre Bikmaz; Jean-Laurent Casanova
Journal:  Clin Infect Dis       Date:  2005-02-17       Impact factor: 9.079

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

Authors:  G Aksu; C Tirpan; C Cavuşoğlu; S Soydan; F Altare; J L Casanova; N Kutukculer
Journal:  Pediatr Infect Dis J       Date:  2001-05       Impact factor: 2.129

6.  Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis.

Authors:  F Altare; A Ensser; A Breiman; J Reichenbach; J E Baghdadi; A Fischer; J F Emile; J L Gaillard; E Meinl; J L Casanova
Journal:  J Infect Dis       Date:  2001-06-14       Impact factor: 5.226

7.  Recurrent Salmonella bacteremia in interleukin-12 receptor beta1 deficiency.

Authors:  Metehan Ozen; Mehmet Ceyhan; Ozden Sanal; Mehmet Bayraktar; Lütfiye Mesci
Journal:  J Trop Pediatr       Date:  2006-03-10       Impact factor: 1.165

8.  Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

Authors:  Isabel Caragol; Miquel Raspall; Claire Fieschi; Jaqueline Feinberg; María N Larrosa; Manuel Hernández; Concepción Figueras; Jose-María Bertrán; Jean-Laurent Casanova; Teresa Español
Journal:  Clin Infect Dis       Date:  2003-07-07       Impact factor: 9.079

9.  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
  9 in total
  9 in total

1.  Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

Authors:  Shokouh Azam Sarrafzadeh; Maryam Nourizadeh; Maryam Mahloojirad; Mohammad Reza Fazlollahi; Raheleh Shokouhi Shoormasti; Mohsen Badalzadeh; Caroline Deswarte; Jean-Laurent Casanova; Zahra Pourpak; Jacinta Bustamante; Mostafa Moin
Journal:  J Clin Immunol       Date:  2019-02-04       Impact factor: 8.317

Review 2.  Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases.

Authors:  Sayna Norouzi; Asghar Aghamohammadi; Setareh Mamishi; Sergio D Rosenzweig; Nima Rezaei
Journal:  J Infect       Date:  2012-03-16       Impact factor: 6.072

Review 3.  Two cases of disseminated BCG disease following vaccination in the same family: case reports and review of the literature in China.

Authors:  Jing Wang; Qiang-Song Wu; Ming-Bo Jiang; Zhen-Hui Xu
Journal:  Hum Vaccin Immunother       Date:  2020-10-20       Impact factor: 3.452

4.  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 5.  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

6.  Chinese patients with defective IL-12/23-interferon-gamma circuit in Taiwan: partial dominant interferon-gamma receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor beta1 mutation as pneumatocele.

Authors:  Wen-I Lee; Jing-Long Huang; Tzou-Yien Lin; Chuen Hsueh; Alex M Wong; Meng-Ying Hsieh; Cheng-Hsun Chiu; Tang-Her Jaing
Journal:  J Clin Immunol       Date:  2008-10-01       Impact factor: 8.317

7.  Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

Authors:  Nioosha Nekooie-Marnany; Caroline Deswarte; Vajiheh Ostadi; Bahram Bagherpour; Elaheh Taleby; Mazdak Ganjalikhani-Hakemi; Tom Le Voyer; Hamid Rahimi; Jérémie Rosain; Zahra Pourmoghadas; Saba Sheikhbahaei; Razieh Khoshnevisan; Daniel Petersheim; Daniel Kotlarz; Christoph Klein; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Jacinta Bustamante; Roya Sherkat
Journal:  J Clin Immunol       Date:  2018-09-25       Impact factor: 8.317

Review 8.  Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.

Authors:  Stéphanie Boisson-Dupuis; Jacinta Bustamante; Jamila El-Baghdadi; Yildiz Camcioglu; Nima Parvaneh; Safaa El Azbaoui; Aomar Agader; Amal Hassani; Naima El Hafidi; Nidal Alaoui Mrani; Zineb Jouhadi; Fatima Ailal; Jilali Najib; Ismail Reisli; Adil Zamani; Sebnem Yosunkaya; Saniye Gulle-Girit; Alisan Yildiran; Funda Erol Cipe; Selda Hancerli Torun; Ayse Metin; Basak Yildiz Atikan; Nevin Hatipoglu; Cigdem Aydogmus; Sara Sebnem Kilic; Figen Dogu; Neslihan Karaca; Guzide Aksu; Necil Kutukculer; Melike Keser-Emiroglu; Ayper Somer; Gonul Tanir; Caner Aytekin; Parisa Adimi; Seyed Alireza Mahdaviani; Setareh Mamishi; Aziz Bousfiha; Ozden Sanal; Davood Mansouri; Jean-Laurent Casanova; Laurent Abel
Journal:  Immunol Rev       Date:  2015-03       Impact factor: 12.988

Review 9.  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
  9 in total

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