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Results: 15

Cited In for PubMed (Select 15178580)

1.

IL12Rβ1: the cytokine receptor that we used to know.

Robinson RT.

Cytokine. 2015 Feb;71(2):348-59. doi: 10.1016/j.cyto.2014.11.018. Epub 2014 Dec 13.

PMID:
25516297
2.

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL.

Semin Immunol. 2014 Dec;26(6):454-70. doi: 10.1016/j.smim.2014.09.008. Epub 2014 Oct 26. Review.

PMID:
25453225
3.

Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella.

Ramirez-Alejo N, Santos-Argumedo L.

J Interferon Cytokine Res. 2014 May;34(5):307-17. doi: 10.1089/jir.2013.0050. Epub 2013 Dec 20. Review.

4.

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. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Review.

5.

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.

Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Alangari A, Al-Mousa H, Mobaireek KF, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Jannière L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL.

Medicine (Baltimore). 2013 Mar;92(2):109-22. doi: 10.1097/MD.0b013e31828a01f9. Erratum in: Medicine (Baltimore). 2013 May;92(3):190. Alangari, Abdullah A [added]; Mobaireek, Khalid F [added].

6.

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.

Tsumura M, Okada S, Sakai H, Yasunaga S, Ohtsubo M, Murata T, Obata H, Yasumi T, Kong XF, Abhyankar A, Heike T, Nakahata T, Nishikomori R, Al-Muhsen S, Boisson-Dupuis S, Casanova JL, Alzahrani M, Shehri MA, Elghazali G, Takihara Y, Kobayashi M.

Hum Mutat. 2012 Sep;33(9):1377-87. doi: 10.1002/humu.22113. Epub 2012 Jun 7.

7.

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.

Bustamante J, Picard C, Boisson-Dupuis S, Abel L, Casanova JL.

Ann N Y Acad Sci. 2011 Dec;1246:92-101. doi: 10.1111/j.1749-6632.2011.06273.x. Review.

8.

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PP, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Ozbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus C, Asilsoy S, Camcioglu Y, Gülle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL.

Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832.

9.

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.

Pedraza S, Lezana JL, Samarina A, Aldana R, Herrera MT, Boisson-Dupuis S, Bustamante J, Pages P, Casanova JL, Picard C.

Pediatrics. 2010 Oct;126(4):e971-6. doi: 10.1542/peds.2009-2504. Epub 2010 Sep 20.

10.

A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.

Yancoski J, Rocco C, Bernasconi A, Oleastro M, Bezrodnik L, Vrátnica C, Haerynck F, Rosenzweig SD.

Infect Genet Evol. 2009 Jul;9(4):574-80. doi: 10.1016/j.meegid.2009.02.010. Epub 2009 Mar 9.

11.

IL-23 and IL-17 in tuberculosis.

Khader SA, Cooper AM.

Cytokine. 2008 Feb;41(2):79-83. doi: 10.1016/j.cyto.2007.11.022. Epub 2008 Jan 22. Review.

12.

Human genetics of infectious diseases: a unified theory.

Casanova JL, Abel L.

EMBO J. 2007 Feb 21;26(4):915-22. Epub 2007 Jan 25. Review.

13.

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, Casrouge A, Yang K, Soudais C, Fieschi C, Santos OF, Bustamante J, Picard C, de Beaucoudrey L, Emile JF, Arkwright PD, Schreiber RD, Rolinck-Werninghaus C, Rösen-Wolff A, Magdorf K, Roesler J, Casanova JL.

PLoS Genet. 2006 Aug 18;2(8):e131.

14.

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.

Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, Frucht DM, Christel K, von Bernuth H, Jouanguy E, Feinberg J, Durandy A, Senechal B, Chapgier A, Vogt G, de Beaucoudrey L, Fieschi C, Picard C, Garfa M, Chemli J, Bejaoui M, Tsolia MN, Kutukculer N, Plebani A, Notarangelo L, Bodemer C, Geissmann F, Israël A, Véron M, Knackstedt M, Barbouche R, Abel L, Magdorf K, Gendrel D, Agou F, Holland SM, Casanova JL.

J Exp Med. 2006 Jul 10;203(7):1745-59. Epub 2006 Jul 3.

15.

Interleukin 12p40 is required for dendritic cell migration and T cell priming after Mycobacterium tuberculosis infection.

Khader SA, Partida-Sanchez S, Bell G, Jelley-Gibbs DM, Swain S, Pearl JE, Ghilardi N, Desauvage FJ, Lund FE, Cooper AM.

J Exp Med. 2006 Jul 10;203(7):1805-15. Epub 2006 Jul 3.

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