PURPOSE: The aim of this study is to investigate clinical characteristics and genetic backgrounds of Mendelian susceptibility to mycobacterial diseases (MSMD) in Japan. METHODS: Forty-six patients diagnosed as having MSMD were enrolled in this study. All patients were analyzed for the IFNGR1, IFNGR2, IL12B, IL12RB1, STAT1, and NEMO gene mutations known to be associated with MSMD. RESULTS: Six patients and one patient were diagnosed as having partial interferon-γ receptor 1 deficiency and nuclear factor-κB-essential modulator deficiency, respectively. Six of the seven patients had recurrent disseminated mycobacterial infections, while 93% of the patients without these mutations had only one episode of infection. CONCLUSIONS: The patients with a genetic mutation were more susceptible to developing recurrent disseminated mycobacterial infections. Recurrent disseminated mycobacterial infections occurred in a small number of patients even without these mutations, suggesting the presence of as yet undetermined genetic factors underlying the development and progression of this disease.
PURPOSE: The aim of this study is to investigate clinical characteristics and genetic backgrounds of Mendelian susceptibility to mycobacterial diseases (MSMD) in Japan. METHODS: Forty-six patients diagnosed as having MSMD were enrolled in this study. All patients were analyzed for the IFNGR1, IFNGR2, IL12B, IL12RB1, STAT1, and NEMO gene mutations known to be associated with MSMD. RESULTS: Six patients and one patient were diagnosed as having partial interferon-γ receptor 1 deficiency and nuclear factor-κB-essential modulator deficiency, respectively. Six of the seven patients had recurrent disseminated mycobacterial infections, while 93% of the patients without these mutations had only one episode of infection. CONCLUSIONS: The patients with a genetic mutation were more susceptible to developing recurrent disseminated mycobacterial infections. Recurrent disseminated mycobacterial infections occurred in a small number of patients even without these mutations, suggesting the presence of as yet undetermined genetic factors underlying the development and progression of this disease.
Authors: Tom H M Ottenhoff; Frank A W Verreck; Marieke A Hoeve; Esther van de Vosse Journal: Tuberculosis (Edinb) Date: 2004-12-31 Impact factor: 3.131
Authors: J Roesler; B Kofink; J Wendisch; S Heyden; D Paul; W Friedrich; J L Casanova; W Leupold; M Gahr; A Rösen-Wolff Journal: Exp Hematol Date: 1999-09 Impact factor: 3.084
Authors: Dewton de Moraes-Vasconcelos; Anete S Grumach; Augusto Yamaguti; Maria Elisa B Andrade; Claire Fieschi; Ludovic de Beaucoudrey; Jean-Laurent Casanova; Alberto J S Duarte Journal: Clin Infect Dis Date: 2005-07-15 Impact factor: 9.079
Authors: F Altare; D Lammas; P Revy; E Jouanguy; R Döffinger; S Lamhamedi; P Drysdale; D Scheel-Toellner; J Girdlestone; P Darbyshire; M Wadhwa; H Dockrell; M Salmon; A Fischer; A Durandy; J L Casanova; D S Kumararatne Journal: J Clin Invest Date: 1998-12-15 Impact factor: 14.808
Authors: John C Chambers; James Abbott; Weihua Zhang; Ernest Turro; William R Scott; Sian-Tsung Tan; Uzma Afzal; Saima Afaq; Marie Loh; Benjamin Lehne; Paul O'Reilly; Kyle J Gaulton; Richard D Pearson; Xinzhong Li; Anita Lavery; Jana Vandrovcova; Mark N Wass; Kathryn Miller; Joban Sehmi; Laticia Oozageer; Ishminder K Kooner; Abtehale Al-Hussaini; Rebecca Mills; Jagvir Grewal; Vasileios Panoulas; Alexandra M Lewin; Korrinne Northwood; Gurpreet S Wander; Frank Geoghegan; Yingrui Li; Jun Wang; Timothy J Aitman; Mark I McCarthy; James Scott; Sarah Butcher; Paul Elliott; Jaspal S Kooner Journal: PLoS One Date: 2014-08-12 Impact factor: 3.240