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 *

181 related articles for article (PubMed ID: 36044171)

  • 21. 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]  

  • 22. Clinical and immunological profile of children with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) from an Indian tertiary care hospital.
    Indumathi CK; Bustamante J
    Indian J Tuberc; 2021 Apr; 68(2):292-297. PubMed ID: 33845970
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature.
    Azarsiz E; Karaca N; Karaca E; Aksu G; Genel F; Gulez N; Ozen S; Kutukculer N
    Asian Pac J Allergy Immunol; 2023 Dec; 41(4):372-378. PubMed ID: 33638623
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Mendelian predisposition to mycobacterial infections in humans].
    Casanova JL
    J Soc Biol; 2000; 194(1):25-8. PubMed ID: 11107546
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Inherited disorders of IL-12- and IFNgamma-mediated immunity: a molecular genetics update.
    Döffinger R; Dupuis S; Picard C; Fieschi C; Feinberg J; Barcenas-Morales G; Casanova JL
    Mol Immunol; 2002 May; 38(12-13):903-9. PubMed ID: 12009568
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Genetic predisposition to infective diseases in humans. Mendelian predisposition to mycobacterial infections].
    Casanova JL
    Bull Acad Natl Med; 2000; 184(7):1409-15; discussion 1415-6. PubMed ID: 11261247
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.
    Bustamante J; Picard C; Fieschi C; Filipe-Santos O; Feinberg J; Perronne C; Chapgier A; de Beaucoudrey L; Vogt G; Sanlaville D; Lemainque A; Emile JF; Abel L; Casanova JL
    J Med Genet; 2007 Feb; 44(2):e65. PubMed ID: 17293536
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
    Esteve-Solé A; Sologuren I; Martínez-Saavedra MT; Deyà-Martínez À; Oleaga-Quintas C; Martinez-Barricarte R; Martin-Nalda A; Juan M; Casanova JL; Rodriguez-Gallego C; Alsina L; Bustamante J
    Crit Rev Clin Lab Sci; 2018 May; 55(3):184-204. PubMed ID: 29502462
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The Child with Recurrent Mycobacterial Disease.
    Reed B; Dolen WK
    Curr Allergy Asthma Rep; 2018 Jun; 18(8):44. PubMed ID: 29936646
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.
    Tan Ç; Çağdaş-Ayvaz D; Metin A; Keskin Ö; Tezcan İ; Sanal Ö
    Turk J Pediatr; 2016; 58(4):356-361. PubMed ID: 28276206
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Mendelian susceptibility to mycobacterial disease: a case report of disseminated infection due to Mycobacterium avium].
    Darleguy A; Bost-Bru C; Pagnier A; Plantaz D; Piolat C; Nugues F; Picard C
    Arch Pediatr; 2013 Jul; 20(7):758-61. PubMed ID: 23726680
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Characterization of two novel mutations in IL-12R signaling in MSMD patients.
    Fayez EA; Koohini Z; Koohini Z; Zamanzadeh H; de Boer M; Roos D; Teimourian S
    Pathog Dis; 2019 Apr; 77(3):. PubMed ID: 31158284
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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. PubMed ID: 25453225
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mendelian susceptibility to mycobacterial disease in tuberculosis-hyperendemic South Africa.
    Cornelissen HM; Glanzmann B; Van Coller A; Engelbrecht C; Abraham DR; Reddy K; Möller M; Kinnear C; Glashoff RH; Esser M
    S Afr Med J; 2021 Oct; 111(10):998-1005. PubMed ID: 34949297
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. 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]  

  • 39. 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. PubMed ID: 24359575
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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; 2017 Oct; 37(7):732-738. PubMed ID: 28865061
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.