Associated Papers
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.
Huang J et al.
Frontiers in Public Health, 2024
A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity.
Ripen AM et al.
Clinical and Experimental 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
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
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Bisgin A et al.
Biomed Research International, 2018
Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report.
Hatipoglu N et al.
Pediatrics, 2017
Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.
Tan Ç et al.
The Turkish Journal of Pediatrics, 2016
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
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
Recurrent Salmonella bacteremia in interleukin-12 receptor beta1 deficiency.
Ozen M et al.
Journal of Tropical Pediatrics, 2006