title: Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan.
abstract: OBJECTIVE
  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.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Hoshina
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Takada
authors.forename: Yuka
authors.initials: Y
authors.lastname: Sasaki-Mihara
authors.forename: Koichi
authors.initials: K
authors.lastname: Kusuhara
authors.forename: Koichi
authors.initials: K
authors.lastname: Ohshima
authors.forename: Satoshi
authors.initials: S
authors.lastname: Okada
authors.forename: Masao
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Osamu
authors.initials: O
authors.lastname: Ohara
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005434:Flow Cytometry; D020022:Genetic Predisposition to Disease; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007223:Infant; D007371:Interferon-gamma / Q000276:immunology; D007564:Japan / Q000453:epidemiology; D008137:Longitudinal Studies; D008297:Male; D057182:Mendelian Randomization Analysis; D009154:Mutation; D009161:Mycobacterium / Q000502:physiology; D009164:Mycobacterium Infections / Q000208:ethnology / Q000235:genetics* / Q000276:immunology / Q000382:microbiology / Q000473:pathology; D016133:Polymerase Chain Reaction; D017471:Receptors, Interferon / Q000235:genetics* / Q000276:immunology; D017422:Sequence Analysis, DNA; D000096743:Interferon gamma Receptor
chemical_list: D051550:I-kappa B Kinase; D007371:Interferon-gamma; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor; C491731:IKBKG protein, human