| Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis. | Discovering the link between IL12RB1 gene polymorphisms and tuberculosis susceptibility: a comprehensive meta-analysis.
Huang J, He Q, Huang L, Liu L, Yang P, Chen M., Free PMC Article | 03/11/2024 |
| IL12RB1 allele bias in human TH cells is regulated by functional SNPs in its 3'UTR. | IL12RB1 allele bias in human T(H) cells is regulated by functional SNPs in its 3'UTR.
Rosas Mejia O, Claeys TA, Williams A, Zafar A, Robinson RT. | 09/17/2022 |
| Novel IL-12Rbeta1 deficiency-mediates recurrent cutaneous leishmaniasis. | Novel IL-12Rβ1 deficiency-mediates recurrent cutaneous leishmaniasis.
Khattak FA, Akbar NU, Riaz M, Hussain M, Rehman K, Khan SN, Khan TA. | 12/11/2021 |
| Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation. | Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation.
Liu M, Lu B, Zeng P, Huang B, Xu Y, Liang H, Yang D, Yang S, Luo HB, Lew AM, Masters SL, Geng L, Zeng H, Zhang Y. | 08/7/2021 |
| Novel nonsense IL-12Rbeta1 mutation associated with recurrent tuberculosis. | Novel nonsense IL-12Rβ1 mutation associated with recurrent tuberculosis.
Ul Akbar N, Khan SN, Amin MU, Ishfaq M, Cabral-Marques O, Schimke LF, Iqbal A, Ullah I, Hussain M, Ali I, Khan N, El Khawanky N, Rahman H, Khan TA. | 05/2/2020 |
| Mutation analysis showed three previously reported mutations, two novel mutations in IL-12 R (beta1/beta2), and one previously reported mutation in IL-12 Mendelian Susceptibility to Mycobacterial Disease patients. | Characterization of two novel mutations in IL-12R signaling in MSMD patients.
Fayez EA, Koohini Z, Koohini Z, Zamanzadeh H, de Boer M, Roos D, Teimourian S. | 03/14/2020 |
| IL12Rbeta1 deficiency must be regarded as a possible defect in patients suffering from unusual sensitivity to intracellular bacteria, which can be easily assessed primarily using flow cytometry | Mendelian susceptibility to mycobacterial disease: Clinical and immunological findings of patients suspected for IL12Rβ1 deficiency.
Moradi L, Cheraghi T, Yazdani R, Azizi G, Rasouli S, Zavareh FT, Parvaneh L, Parvaneh N, Sohani M, Delavari S, Abolhassani H, Rezaei N, Aghamohammadi A. | 02/22/2020 |
| Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease. | Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease.
Zhou X, Jia W, Ni Z, Wang A, Liu Z, Hou M, Zhou M, Tang Z, Zhang D, Li L, Han T, Tan Y, Luo G, Wang J, Wu Y, Zhang X., Free PMC Article | 01/11/2020 |
| The IL12RB1 locus is Alu-enriched and therefore prone to rearrangements at various positions. CNVs should be considered in the genetic diagnosis of IL-12Rbeta1 deficiency. | A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J., Free PMC Article | 10/19/2019 |
| Our data demonstrates that low serum IL-12 levels may be associated with high risk human papillomavirus (hrHPV) susceptibility but are not associated with IL-12 gene polymorphisms; furthermore, IL-12 and IL12R gene polymorphisms may not contribute susceptibility to hrHPV in rural women from Luohe, Henan, China. | Associations of IL-12, IL12R polymorphisms and serum IL-12 levels with high-risk human papillomavirus susceptibility in rural women from Luohe, Henan, China.
Song J, Zhang Q, Wang R, Sun M, Jin S., Free PMC Article | 10/12/2019 |
| Tissue expression of IL12RB1 is allele-biased and produces an hnRNP H bound pre-mRNA, the processing of which generates a novel IL12 response regulator. | Human IL12RB1 expression is allele-biased and produces a novel IL12 response regulator.
Reeme AE, Claeys TA, Aggarwal P, Turner AJ, Routes JM, Broeckel U, Robinson RT., Free PMC Article | 05/18/2019 |
| Mutations in IL12RB1 that result in lack of expression on cell membrane are associated with susceptibility to mycobacterial infection in three Iranian children. | Susceptibility to mycobacterial disease due to mutations in IL-12Rβ1 in three Iranian patients.
Alinejad Dizaj M, Mortaz E, Mahdaviani SA, Mansouri D, Mehrian P, Verhard EM, Varahram M, Babaie D, Adcock IM, Garssen J, van de Vosse E, Velayati A., Free PMC Article | 03/9/2019 |
| A novel IL12RB1 N-terminal signal peptide stop-gain loss-of-function homozygous genotype connects three unrelated Brazilian kindreds with IL-12Rbeta1 deficiency with varying severity and early-onset age mainly regarding susceptibility to Mycobacteria, Histoplasma, and Salmonella infections through the paradoxical diminished cell-surface expression of an impaired IL-12Rbeta1 polypeptide. | Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression.
Louvain de Souza T, de Souza Campos Fernandes RC, Azevedo da Silva J, Gomes Alves Júnior V, Gomes Coelho A, Souza Faria AC, Moreira Salomão Simão NM, Souto Filho JT, Deswarte C, Boisson-Dupuis S, Torgerson D, Casanova JL, Bustamante J, Medina-Acosta E., Free PMC Article | 03/13/2018 |
| To our knowledge, this is the third patient with Mendelian susceptibility to mycobacterial disease due to IL-12Rbeta1 deficiency complicated with enteropathy and hypogammaglobulinemia and the first case of this disease to be described in Colombia. | Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.
Arias AA, Perez-Velez CM, Orrego JC, Moncada-Velez M, Rojas JL, Wilches A, Restrepo A, Trujillo M, Garcés C, Arango-Ferreira C, González N, Oleaga-Quintas C, Fernández D, Isaza-Correa JM, Gongóra DE, Gonzalez-Loaiza D, Sierra JE, Casanova JL, Bustamante J, Franco JL. | 02/3/2018 |
| Th17 cells expressed consistent high levels of the IL-12Rbeta1 subunit, which appeared a better predictor of responsiveness to IL-23 than the expression of the IL-23R subunit. | Distinctive expression of interleukin-23 receptor subunits on human Th17 and γδ T cells.
Wines BD, Yap ML, Powell MS, Tan PS, Ko KK, Orlowski E, Hogarth PM. | 12/2/2017 |
| Polymorphisms of IFNG, IL12B and IL12RB1 genes in paracoccidioidomycosis Brazilian patients do not affect the susceptibility or resistance to the disease. | Polymorphisms on IFNG, IL12B and IL12RB1 genes and paracoccidioidomycosis in the Brazilian population.
Carvalho FM, Busser FD, Freitas VL, Furucho CR, Sadahiro A, Kono AS, Criado PR, Moretti ML, Sato PK, Shikanai-Yasuda MA. | 10/7/2017 |
| Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rbeta1 deficiencies | Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies.
Parvaneh N, Barlogis V, Alborzi A, Deswarte C, Boisson-Dupuis S, Migaud M, Farnaria C, Markle J, Parvaneh L, Casanova JL, Bustamante J. | 09/2/2017 |
| The results of this case-control study suggest that IL-12A, IL-12B, IL12RB1, IL12RB2 and IL23R make no genetic contribution to the susceptibility of Takayasu arteritis in Chinese populations | Lack of association between polymorphisms in interleukin (IL)-12, IL-12R, IL-23, IL-23R genes and Takayasu arteritis in a Chinese population.
Yang KQ, Yang YK, Meng X, Zhang Y, Jiang XJ, Wu HY, Zhang HM, Song L, Bian J, Wen D, Wang LP, Zhou XL. | 04/22/2017 |
| Truncated IL12rbeta1/Fc is a novel fusion protein for specific binding multiple forms of p40 subunit to exert potent anti-inflammatory effects. | A novel human truncated IL12rβ1-Fc fusion protein ameliorates experimental autoimmune encephalomyelitis via specific binding of p40 to inhibit Th1 and Th17 cell differentiation.
Guo W, Wang C, Wang X, Luo C, Yu D, Wang Y, Chen Y, Lei W, Gao X, Yao W., Free PMC Article | 08/6/2016 |
| the introduction of RNA-DNA differences into an individual's IL12RB1 mRNA repertoire is a novel determinant of IL12/23 sensitivity. | The introduction of RNA-DNA differences underlies interindividual variation in the human IL12RB1 mRNA repertoire.
Turner AJ, Aggarwal P, Miller HE, Waukau J, Routes JM, Broeckel U, Robinson RT., Free PMC Article | 05/14/2016 |
| we describe cosegregation of a heterozygous germline defect in IL12RB1 and gastric cancer development in a family with IL-12Rbeta1 deficiency | Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation.
Vogelaar IP, van der Post RS, van de Vosse E, van Krieken JH, Hoogerbrugge N, Ligtenberg MJ, Gómez García E. | 01/2/2016 |
| individual variability in IL12RB1 function is introduced at the epigenetic, genomic polymorphism, and mRNA splicing levels [review] | IL12Rβ1: the cytokine receptor that we used to know.
Robinson RT., Free PMC Article | 11/14/2015 |
| Early coupled up-regulation of IL12RB1 in CD8+ central memory and effector T cells result in better clinical outcomes in liver transplant recipients. | Early coupled up-regulation of interleukin-12 receptor beta-1 in CD8+ central memory and effector T cells for better clinical outcomes in liver transplant recipients.
Uemoto S, Ozawa K, Kaido T, Mori A, Fujimoto Y, Ogawa K., Free PMC Article | 10/3/2015 |
| Strong association of rs438421 in the IL-12Rbeta1 gene with Allergic rhinitis in Chinese was demonstrated . The GG genotype of rs438421 was validated as stimulus factors to AR, while the AG genotype of rs438421 was confirmed as protective factors to AR. | Association study between interleukin-12 receptor β1/β2 genes and allergic rhinitis in the Chinese Han population.
Wei P, Kou W, Sun R, Hu GH, Hu D, Feng J, Hong SL, Kang HY. | 09/26/2015 |
| Genetic variations of IL-12B, IL-12Rbeta1, IL-12Rbeta2 in Behcet's disease and VKH syndrome. | Genetic variations of IL-12B, IL-12Rβ1, IL-12Rβ2 in Behcet's disease and VKH syndrome.
Li X, Bai L, Fang J, Hou S, Zhou Q, Yu H, Kijlstra A, Yang P., Free PMC Article | 06/20/2015 |