IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database-Reference-Cited by-同舟云学术

IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database

Published:2013-08-08 Issue:10 Volume:34 Page:1329-1339
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

van de Vosse Esther¹,Haverkamp Margje H.¹,Ramirez-Alejo Noe²,Martinez-Gallo Mónica³,Blancas-Galicia Lizbeth⁴,Metin Ayşe⁵,Garty Ben Zion⁶,Sun-Tan Çağman⁷,Broides Arnon⁸,de Paus Roelof A.¹,Keskin Özlem⁹,Çağdaş Deniz⁷,Tezcan Ilhan⁷,Lopez-Ruzafa Encarna¹⁰,Aróstegui Juan I.¹¹,Levy Jacov⁸,Espinosa-Rosales Francisco J.⁴,Sanal Özden⁷,Santos-Argumedo Leopoldo²,Casanova Jean-Laurent,Boisson-Dupuis Stephanie,van Dissel Jaap T.¹,Bustamante Jacinta

Affiliation:

1. Department of Infectious Diseases; Leiden University Medical Center; Leiden; The Netherlands

2. Departamento de Biomedicina Molecular; Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional; Ciudad de México; México

3. Department of Immunology; Vall d'Hebron University Hospital; Barcelona; Spain

4. Unidad de Investigación en Inmunodeficiencias; Instituto Nacional de Pediatría; Ciudad de México; México

5. Pediatric Immunology and Allergy Department; Ankara Children's Diseases Hematology Oncology Training Hospital; Ankara; Turkey

6. Department of Pediatrics; Schneider Children's Medical Center of Israel and Felsenstein Medical Research Center; Tel Aviv University; Tel Aviv; Israel

7. Immunology Division; Hacettepe University Children's Hospital; Ankara; Turkey

8. Pediatric Department; Soroka Medical Center; Faculty of Health Sciences; Ben Gurion University; Beer Sheva; Israel

9. Department of Pediatric Allergy and Immunology; Medical Faculty; Gaziantep University; Gaziantep; Turkey

10. Unidad Gastroenterología y Nutrición Infantil; Hospital Torrecárdenas; Almeria; Spain

11. Immunology Department; Hospital Clinic-IDIBAPS; Barcelona; Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22380/fullpdf

Reference89 articles.

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3. Influence of interleukin-12 receptor β1 polymorphisms on tuberculosis;Akahoshi;Hum Genet,2003

4. Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency;Aksu;Pediatr Infect Dis J,2001

5. Treatment of disseminated Mycobacterial infection with high-dose IFN-γ in a patient with IL-12Rβ1 deficiency;Alangari;Clin Dev Immunol,2011

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