| 1 | IL12RB1, IL12RB1D
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| Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.
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| 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.
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| J Clin Immunol Clin Immunol. 2017 Sep 1. doi: 10.1007/s10875-017-0435-1. [Epub ahead of print]
2017
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| 2 | IL12RB1, IL12RB1D
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| Molecular analysis for patients with IL-12 receptor β1 deficiency.
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| Ramirez-Alejo N, Blancas-Galicia L, Yamazaki-Nakashimada M, García-Rodríguez SE, Rivas-Larrauri F, Paolo-Cienfuegos DP, Alcantara-Salinas A, Espinosa-Rosales F, Santos-Argumedo L.
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| Clin Genet 86(2):161-6. doi: 10.1111/cge.12253. Epub 2013 Sep 11.
2014
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| 3 | IL12RB1, IL12RB1D
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| IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
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| van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, de Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J.
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| Hum Mutat 34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Review.
2013
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| 4 | IFNGR1, IFNGR1D, IFNGR2, IFNGR2D, IL12B40, IL12RB1, IL12RB1D, NEMO, STAT1
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| The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
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| Al-Muhsen S, Casanova JL.
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| J Allergy Clin Immunol 122(6):1043-51; quiz 1052-3. Review. 2008
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| 5 | IL12RB1, IL12RB1D
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| Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes.
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| Takahashi N, Akahoshi M, Matsuda A, Ebe K, Inomata N, Obara K, Hirota T, Nakashima K, Shimizu M, Tamari M, Doi S, Miyatake A, Enomoto T, Nakashima H, Ikezawa Z, Shirakawa T.
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| Hum Mol Genet 14(21):3149-59. Epub 2005 Sep 13. 2005
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| 6 | IL12RB1, IL12RB1D
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| Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency.
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| van de Vosse E, de Paus RA, van Dissel JT, Ottenhoff TH.
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| Hum Mol Genet 14(24):3847-55. Epub 2005 Nov 17. 2005
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| 7 | IL12RB1, IL12RB1D
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| Influence of interleukin-12 receptor beta1 polymorphisms on tuberculosis.
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| Akahoshi M, Nakashima H, Miyake K, Inoue Y, Shimizu S, Tanaka Y, Okada K, Otsuka T, Harada M.
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| Hum Genet 112(3):237-43. 2003
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| 8 | IL12RB1, IL12RB1D, IL12RB2
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| A role for IL-12 receptor expression and signal transduction in host defense in leprosy.
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| Kim J, Uyemura K, Van Dyke MK, Legaspi AJ, Rea TH, Shuai K, Modlin RL.
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| J Immunol 167(2):779-86. 2001
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| 9 | IL12RB1, IL12RB1D
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| Severe mycobacterial and salmonella infections in interleukin-12 receptor-deficient patients.
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| De Jong R, et al.
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| Science 280 : 1435-1438. 1998
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| 10 | IFNGR1, IL12RB1, IL12RB1D
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| Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.
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| Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, Le Deist F, Drysdale P, Jouanguy E, Doffinger R, Bernaudin F, Jeppsson O, Gollob JA, Meinl E, Segal AW, Fischer A, Kumararatne D, Casanova JL.
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| Science 280(5368):1432-5. 1998
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