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Items: 1 to 20 of 131

1.

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].

2.

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.

3.

A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.

Ben-Mustapha I, Ben-Ali M, Mekki N, Patin E, Harmant C, Bouguila J, Elloumi-Zghal H, Harbi A, Béjaoui M, Boughammoura L, Chemli J, Barbouche MR.

Immunogenetics. 2014 Jan;66(1):67-71. doi: 10.1007/s00251-013-0739-0. Epub 2013 Oct 15.

PMID:
24127073
4.

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

Picard C, Fieschi C, Altare F, Al-Jumaah S, Al-Hajjar S, Feinberg J, Dupuis S, Soudais C, Al-Mohsen IZ, Génin E, Lammas D, Kumararatne DS, Leclerc T, Rafii A, Frayha H, Murugasu B, Wah LB, Sinniah R, Loubser M, Okamoto E, Al-Ghonaium A, Tufenkeji H, Abel L, Casanova JL.

Am J Hum Genet. 2002 Feb;70(2):336-48. Epub 2001 Dec 17.

5.

Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency.

Aytekin C, Dogu F, Tuygun N, Tanir G, Guloglu D, Boisson-Dupuis S, Bustamante J, Feinberg J, Casanova JL, Ikinciogullari A.

J Investig Allergol Clin Immunol. 2011;21(5):401-4.

6.

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.

Mansouri D, Adimi P, Mirsaeidi M, Mansouri N, Khalilzadeh S, Masjedi MR, Adimi P, Tabarsi P, Naderi M, Filipe-Santos O, Vogt G, de Beaucoudrey L, Bustamante J, Chapgier A, Feinberg J, Velayati AA, Casanova JL.

Eur J Pediatr. 2005 Dec;164(12):753-7. Epub 2005 Aug 10.

PMID:
16091917
7.

Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections.

Sanal O, Turul T, De Boer T, Van de Vosse E, Yalcin I, Tezcan I, Sun C, Memis L, Ottenhoff TH, Ersoy F.

J Clin Immunol. 2006 Jan;26(1):1-6.

PMID:
16418797
8.

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

Sologuren I, Boisson-Dupuis S, Pestano J, Vincent QB, Fernández-Pérez L, Chapgier A, Cárdenes M, Feinberg J, García-Laorden MI, Picard C, Santiago E, Kong X, Jannière L, Colino E, Herrera-Ramos E, Francés A, Navarrete C, Blanche S, Faria E, Remiszewski P, Cordeiro A, Freeman A, Holland S, Abarca K, Valerón-Lemaur M, Gonçalo-Marques J, Silveira L, García-Castellano JM, Caminero J, Pérez-Arellano JL, Bustamante J, Abel L, Casanova JL, Rodríguez-Gallego C.

Hum Mol Genet. 2011 Apr 15;20(8):1509-23. doi: 10.1093/hmg/ddr029. Epub 2011 Jan 25.

9.

Patients with inhibitory and neutralizing auto-antibodies to interferon-γ resemble the sporadic adult-onset phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) lacking Bacille Calmette-Guerin (BCG)-induced diseases.

Lee WI, Huang JL, Wu TS, Lee MH, Chen IJ, Yu KH, Liu CY, Yang CH, Hsieh MY, Lin YL, Shih YF, Jaing TH, Huang SC, Kuo TT, Ku CL.

Immunobiology. 2013 May;218(5):762-71. doi: 10.1016/j.imbio.2012.08.281. Epub 2012 Aug 31.

PMID:
23083630
10.

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.

Fieschi C, Dupuis S, Catherinot E, Feinberg J, Bustamante J, Breiman A, Altare F, Baretto R, Le Deist F, Kayal S, Koch H, Richter D, Brezina M, Aksu G, Wood P, Al-Jumaah S, Raspall M, Da Silva Duarte AJ, Tuerlinckx D, Virelizier JL, Fischer A, Enright A, Bernhöft J, Cleary AM, Vermylen C, Rodriguez-Gallego C, Davies G, Blütters-Sawatzki R, Siegrist CA, Ehlayel MS, Novelli V, Haas WH, Levy J, Freihorst J, Al-Hajjar S, Nadal D, De Moraes Vasconcelos D, Jeppsson O, Kutukculer N, Frecerova K, Caragol I, Lammas D, Kumararatne DS, Abel L, Casanova JL.

J Exp Med. 2003 Feb 17;197(4):527-35.

11.

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.

12.

[Bacillus Calmette-Guérin (BCG) disease and interleukin 12 receptor β1 deficiency: clinical experience of two familial and one sporadic case].

Strickler A, Pérez A, Risco M, Gallo S.

Rev Chilena Infectol. 2014 Aug;31(4):444-51. doi: 10.4067/S0716-10182014000400010. Spanish.

13.

Impaired in-vitro responses to IL-12 and IFN-γ in Iranian patients with Mendelian susceptibility to mycobacterial disease.

Parvaneh N, Pourakbari B, Rezaei N, Omidvar A, Sabouni F, Mahmoudi S, Khotaei G, Mamishi S.

Allergol Immunopathol (Madr). 2015 Sep-Oct;43(5):456-60. doi: 10.1016/j.aller.2014.05.008. Epub 2014 Sep 6.

PMID:
25201764
14.

Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection.

Elloumi-Zghal H, Barbouche MR, Chemli J, Béjaoui M, Harbi A, Snoussi N, Abdelhak S, Dellagi K.

J Infect Dis. 2002 May 15;185(10):1468-75. Epub 2002 Apr 30.

15.

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.

Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, Chapgier A, Abhyankar A, Furthner D, Djambas Khayat C, Okada S, Bryant VL, Bogunovic D, Kreins A, Moncada-Vélez M, Migaud M, Al-Ajaji S, Al-Muhsen S, Holland SM, Abel L, Picard C, Chaussabel D, Bustamante J, Casanova JL, Boisson-Dupuis S.

Hum Mol Genet. 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16.

16.

Interleukin-12p40 overexpression promotes interleukin-12p70 and interleukin-23 formation but does not affect bacille Calmette-Guérin and Mycobacterium tuberculosis clearance.

Olleros ML, Vesin D, Martinez-Soria E, Allenbach C, Tacchini-Cottier F, Pache JC, Marchal G, Rahman J, Fernández C, Izui S, Garcia I.

Immunology. 2007 Nov;122(3):350-61. Epub 2007 Jul 9.

17.

Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.

Pedraza-Sánchez S, Herrera-Barrios MT, Aldana-Vergara R, Neumann-Ordoñez M, González-Hernández Y, Sada-Díaz E, de Beaucoudrey L, Casanova JL, Torres-Rojas M.

Int J Infect Dis. 2010 Sep;14 Suppl 3:e256-60. doi: 10.1016/j.ijid.2009.11.005. Epub 2010 Feb 19.

18.

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.

19.

Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency.

Lichtenauer-Kaligis EG, de Boer T, Verreck FA, van Voorden S, Hoeve MA, van de Vosse E, Ersoy F, Tezcan I, van Dissel JT, Sanal O, Ottenhoff TH.

Eur J Immunol. 2003 Jan;33(1):59-69.

20.

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

Caragol I, Raspall M, Fieschi C, Feinberg J, Larrosa MN, Hernández M, Figueras C, Bertrán JM, Casanova JL, Español T.

Clin Infect Dis. 2003 Jul 15;37(2):302-6. Epub 2003 Jul 7.

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