Citations for
1IL12RB1, IL12RB1D
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.
J Clin Immunol Clin Immunol. 2017 Sep 1. doi: 10.1007/s10875-017-0435-1. [Epub ahead of print] 2017
2IL12RB1
IL12Rβ1: the cytokine receptor that we used to know.
Robinson RT.
Cytokine 71(2):348-59. doi: 10.1016/j.cyto.2014.11.018. Epub 2014 Dec 13. Review. 2015
3IL12RB1, IL12RB1D
Molecular analysis for patients with IL-12 receptor β1 deficiency.
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.
Clin Genet 86(2):161-6. doi: 10.1111/cge.12253. Epub 2013 Sep 11. 2014
4IL12RB1, IL12RB1D
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.
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.
Hum Mutat 34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Review. 2013
5IL12RB1
Inflammatory signals direct expression of human IL12RB1 into multiple distinct isoforms.
Ford NR, Miller HE, Reeme AE, Waukau J, Bengtson C, Routes JM, Robinson RT.
J Immunol 189(9):4684-94. doi: 10.4049/jimmunol.1200606. Epub 2012 Sep 28. 2012
6IL12RB1
Gene polymorphisms, breast-feeding, and development of food sensitization in early childhood.
Hong X, Wang G, Liu X, Kumar R, Tsai HJ, Arguelles L, Hao K, Pearson C, Ortiz K, Bonzagni A, Apollon S, Fu L, Caruso D, Pongracic JA, Schleimer R, Holt PG, Bauchner H, Wang X.
J Allergy Clin Immunol 128(2):374-81.e2. doi: 10.1016/j.jaci.2011.05.007. 2011
7IL12RB1
Mycobacterium tuberculosis infection induces il12rb1 splicing to generate a novel IL-12Rbeta1 isoform that enhances DC migration.
Robinson RT, Khader SA, Martino CA, Fountain JJ, Teixeira-Coelho M, Pearl JE, Smiley ST, Winslow GM, Woodland DL, Walter MJ, Conejo-Garcia JR, Gubler U, Cooper AM.
J Exp Med 207(3):591-605. doi: 10.1084/jem.20091085. Epub 2010 Mar 8. Erratum in: J Exp Med. 2010 Apr 12;207(4):897. 2010
8IL12RB1
IL-12 p40 homodimer, the so-called biologically inactive molecule, induces nitric oxide synthase in microglia via IL-12R beta 1.
Jana M, Dasgupta S, Pal U, Pahan K.
Glia 57(14):1553-65. doi: 10.1002/glia.20869. 2009
9IFNGR1, IFNGR1D, IFNGR2, IFNGR2D, IL12B40, IL12RB1, IL12RB1D, NEMO, STAT1
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
Al-Muhsen S, Casanova JL.
J Allergy Clin Immunol 122(6):1043-51; quiz 1052-3. Review. 2008
10IL12RB1
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.
de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, Feinberg J, von Bernuth H, Samarina A, Jannière L, Fieschi C, Stéphan JL, Boileau C, Lyonnet S, Jondeau G, Cormier-Daire V, Le Merrer M, Hoarau C, Lebranchu Y, Lortholary O, Chandesris MO, Tron F, Gambineri E, Bianchi L, Rodriguez-Gallego C, Zitnik SE, Vasconcelos J, Guedes M, Vitor AB, Marodi L, Chapel H, Reid B, Roifman C, Nadal D, Reichenbach J, Caragol I, Garty BZ, Dogu F, Camcioglu Y, Gülle S, Sanal O, Fischer A, Abel L, Stockinger B, Picard C, Casanova JL.
J Exp Med 205(7):1543-50. doi: 10.1084/jem.20080321. 2008
11IL12RB1, IL12RB1D
Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes.
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.
Hum Mol Genet 14(21):3149-59. Epub 2005 Sep 13. 2005
12IL12RB1, IL12RB1D
Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency.
van de Vosse E, de Paus RA, van Dissel JT, Ottenhoff TH.
Hum Mol Genet 14(24):3847-55. Epub 2005 Nov 17. 2005
13IL12RB1, IL12RB1D
Influence of interleukin-12 receptor beta1 polymorphisms on tuberculosis.
Akahoshi M, Nakashima H, Miyake K, Inoue Y, Shimizu S, Tanaka Y, Okada K, Otsuka T, Harada M.
Hum Genet 112(3):237-43. 2003
14IL12RB1, IL12RB1D, IL12RB2
A role for IL-12 receptor expression and signal transduction in host defense in leprosy.
Kim J, Uyemura K, Van Dyke MK, Legaspi AJ, Rea TH, Shuai K, Modlin RL.
J Immunol 167(2):779-86. 2001
15IL12RB1, IL12RB1D
Severe mycobacterial and salmonella infections in interleukin-12 receptor-deficient patients.
De Jong R, et al.
Science 280 : 1435-1438. 1998
16IFNGR1, IL12RB1, IL12RB1D
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.
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.
Science 280(5368):1432-5. 1998
17IL12RB1, IL12RB2
Assignment of IL12RB1 and IL12RB2, interleukin-12 receptor beta 1 and beta 2 chains, to human chromosome 19 band p13.1 and chromosome 1 band p31.2, respectively, by in situ hybridization.
Yamamoto K, Kobayashi H, Miura O, Hirosawa S, Miyasaka N.
Cytogenet Cell Genet 77(3-4):257-8. 1997
18IL12RB1
Expression cloning of a human IL-12 receptor component. A new member of the cytokine receptor superfamily with strong homology to gp130.
Chua AO, et al.
J Immunol 153 : 128-136. 1994