These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 19460324)

  • 1. 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. PubMed ID: 19460324
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
    Peñafiel Vicuña AK; Yamazaki Nakashimada M; León Lara X; Mendieta Flores E; Nuñez Núñez ME; Lona-Reyes JC; Hernández Nieto L; Ramírez Vázquez MG; Barroso Santos J; López Iñiguez Á; González Y; Torres M; Lezana Fernández JL; Román Montes CM; Medina-Torres EA; González Serrano E; Bustamante Ogando JC; Lugo Reyes S; Zavaleta Martínez O; Staines Boone AT; Venegas Montoya E; Aguilar Gómez NE; Soudeé C; Jouanguy E; Puel A; Boisson-Dupuis S; Pedraza Sánchez S; Casanova JL; Espinosa Rosales F; Espinosa Padilla S; Bustamante J; Blancas Galicia L
    J Clin Immunol; 2023 Jan; 43(1):123-135. PubMed ID: 36044171
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 23864330
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    Immunogenetics; 2018 Jun; 70(6):373-379. PubMed ID: 29256176
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.
    Nekooie-Marnany N; Deswarte C; Ostadi V; Bagherpour B; Taleby E; Ganjalikhani-Hakemi M; Le Voyer T; Rahimi H; Rosain J; Pourmoghadas Z; Sheikhbahaei S; Khoshnevisan R; Petersheim D; Kotlarz D; Klein C; Boisson-Dupuis S; Casanova JL; Bustamante J; Sherkat R
    J Clin Immunol; 2018 Oct; 38(7):787-793. PubMed ID: 30255293
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.
    Al-Muhsen S; Casanova JL
    J Allergy Clin Immunol; 2008 Dec; 122(6):1043-51; quiz 1052-3. PubMed ID: 19084105
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.
    Ying W; Liu D; Dong X; Wang W; Hui X; Hou J; Yao H; Zhou Q; Sun B; Sun J; Wang X
    J Clin Immunol; 2019 Aug; 39(6):600-610. PubMed ID: 31367980
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 24127073
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    Front Microbiol; 2017; 8():616. PubMed ID: 28450854
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    PLoS One; 2019; 14(4):e0215648. PubMed ID: 30998751
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.
    Mahdaviani SA; Mansouri D; Jamee M; Zaki-Dizaji M; Aghdam KR; Mortaz E; Khorasanizadeh M; Eskian M; Movahedi M; Ghaffaripour H; Baghaie N; Hassanzad M; Chavoshzadeh Z; Mansouri M; Mesdaghi M; Ghaini M; Noori F; Eskandarzadeh S; Kahkooi S; Poorabdolah M; Tabarsi P; Moniri A; Farnia P; Karimi A; Boisson-Dupuis S; Rezaei N; Marjani M; Casanova JL; Bustamante J; Velayati AA
    J Clin Immunol; 2020 Aug; 40(6):872-882. PubMed ID: 32602053
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India.
    Taur PD; Gowri V; Pandrowala AA; Iyengar VV; Chougule A; Golwala Z; Chandak S; Agarwal R; Keni P; Dighe N; Bodhanwala M; Prabhu S; George B; Fouzia NA; Edison ES; Arunachalam AK; Madkaikar MR; Dalvi AD; Yadav RM; Bargir UA; Kambli PM; Rawat A; Das J; Joshi V; Pilania RK; Jindal AK; Bhat S; Bhattad S; Unni J; Radhakrishnan N; Raj R; Uppuluri R; Patel S; Lashkari HP; Aggarwal A; Kalra M; Udwadia Z; Bafna VS; Kanade T; Puel A; Bustamante J; Casanova JL; Desai MM
    Front Immunol; 2021; 12():631298. PubMed ID: 33732252
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical findings and genetic analysis of the patients with IL-12Rβ1 deficiency from southeast Turkey.
    Doğruel D; Gündeşlioğlu ÖÖ; Yılmaz M; Alabaz D; Altıntaş DU; Kocabaş E
    Turk J Pediatr; 2019; 61(2):174-179. PubMed ID: 31951326
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl.
    Esteve-Sole A; Sánchez-Dávila SP; Deyà-Martínez A; Freeman AF; Zelazny AM; Dekker JP; Khil PP; Holland SM; Noguera-Julian A; Bustamante J; Casanova JL; Juan M; Cordova W; Alsina L
    J Clin Immunol; 2018 Aug; 38(6):712-716. PubMed ID: 30039354
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetic heterogeneity of Mendelian susceptibility to mycobacterial infection.
    Döffinger R; Altare F; Casanova JL
    Microbes Infect; 2000 Nov; 2(13):1553-7. PubMed ID: 11113374
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal recessive
    Abdelmajeed O; Ali MMD; Erwa NH; Mustafa A; Ahmed YA; Ahmed RHA; Mohammed HHE; Hassan ME; Ahmed M; Algam S
    Front Immunol; 2023; 14():1135824. PubMed ID: 37063912
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 20171917
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.
    Sarrafzadeh SA; Nourizadeh M; Mahloojirad M; Fazlollahi MR; Shokouhi Shoormasti R; Badalzadeh M; Deswarte C; Casanova JL; Pourpak Z; Bustamante J; Moin M
    J Clin Immunol; 2019 Apr; 39(3):287-297. PubMed ID: 30715640
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Syrian Refugee in Iraq Diagnosed as a Case of IL12RB1 Deficiency in Japan Using Dried Blood Spots.
    Al-Kzayer LFY; Yassin AK; Salih KH; Shigemura T; Sano K; Al-Simaani RBY; Tanaka M; Nakazawa Y; Okuno Y
    Front Immunol; 2019; 10():58. PubMed ID: 30740107
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    J Clin Immunol; 2018 Jul; 38(5):617-627. PubMed ID: 29995221
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.