Associated Papers
IL12RB1 deficiency appearing in North America: expanding the clinical phenotypes.
Wang C et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2025
Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.
Rodriguez-Salamanca J et al.
Frontiers in Oncology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.
Khavandegar A et al.
The Journal of Allergy and Clinical Immunology, 2024
Consanguineous marriages increase the incidence of recurrent tuberculosis: Evidence from whole exome sequencing.
Akbar NU et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2024
Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.
Huang J et al.
Frontiers in Public Health, 2024
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
Peñafiel Vicuña AK et al.
Journal of Clinical Immunology, 2023
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Frede N et al.
Journal of Clinical Immunology, 2021
An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.
Das J et al.
Expert Review of Clinical Immunology, 2021
Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature.
Sharifinejad N et al.
Pediatric Rheumatology Online Journal, 2021
Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.
Arunachalam AK et al.
Journal of Clinical Immunology, 2021
Severe cases of BCGosis-susceptible primary immunodeficiency diseases identified by next-generation sequencing: Implications for adjustment of BCG vaccination timing in China.
Liu G et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020
IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease.
Khoshnevisan R et al.
Journal of Clinical Tuberculosis and Other Mycobacterial Diseases, 2019
Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.
Ying W et al.
Journal of Clinical Immunology, 2019
Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.
Sarrafzadeh SA et al.
Journal of Clinical Immunology, 2019
Clinical findings and genetic analysis of the patients with IL-12Rβ1 deficiency from southeast Turkey.
Doğruel D et al.
The Turkish Journal of Pediatrics, 2019
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J et al.
Journal of Clinical Immunology, 2018
Oral Administration of Human Polyvalent IgG by Mouthwash as an Adjunctive Treatment of Chronic Oral Candidiasis.
Pedraza-Sánchez S et al.
Frontiers in Immunology, 2018
Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children.
Sarrafzadeh SA et al.
Iranian Journal of Public Health, 2016
Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children.
Sarrafzadeh SA et al.
Iranian Journal of Public Health, 2016
Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.
Ouederni M et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2014
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
van de Vosse E et al.
Human Mutation, 2013
Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).
Lee WI et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2011
IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.
Boisson-Dupuis S et al.
Plos One, 2011
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L et al.
Medicine, 2010
Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.
Pedraza S et al.
Pediatrics, 2010
Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.
Pedraza-Sánchez S et al.
International Journal of Infectious Diseases : Ijid : Official Publication of the International Society for Infectious Diseases, 2010
Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency.
Cárdenes M et al.
Journal of Medical Genetics, 2010
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.
Lee WI et al.
Journal of Clinical Immunology, 2009
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.
de Beaucoudrey L et al.
The Journal of Experimental Medicine, 2008
Severe mycobacterial infections in two pairs of Chinese siblings with interleukin-12 receptor beta1 deficiency.
Lee PP et al.
European Journal of Pediatrics, 2008
Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.
Tanir G et al.
European Journal of Pediatrics, 2006
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.
Fieschi C et al.
The Journal of Experimental Medicine, 2003
[Disseminated infection caused by the bacillus Calmette-Guérin vaccine and SARS-CoV-2 coinfection in a patient with IL-12 receptor β1 subunit deficiency].
Allen-Manzur JG et al.
Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 0