title: Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Kataoka
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Muramatsu
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Okuno
authors.affiliation: Department of Respiratory Medicine, National Hospital Organization, Higashi Nagoya National Hospital, Nagoya, Japan.
authors.forename: Yuta
authors.initials: Y
authors.lastname: Hayashi
authors.affiliation: Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Mizoguchi
authors.affiliation: Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.
authors.forename: Miyuki
authors.initials: M
authors.lastname: Tsumura
authors.affiliation: Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Okada
authors.affiliation: Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.
authors.forename: Masao
authors.initials: M
authors.lastname: Kobayashi
authors.affiliation: Department of Microbiology and Immunology, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.
authors.forename: Chiaki
authors.initials: C
authors.lastname: Sano
authors.affiliation: Department of Oral and Maxillofacial Surgery, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Japan.
authors.forename: Haruki
authors.initials: H
authors.lastname: Sato
authors.affiliation: Department of Oral and Maxillofacial Surgery, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Oh-Iwa
authors.affiliation: Department of Pathology, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Japan.
authors.forename: Masahumi
authors.initials: M
authors.lastname: Ito
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Daiei
authors.initials: D
authors.lastname: Kojima
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Asahito
authors.initials: A
authors.lastname: Hama
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Takahashi
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: kojimas@med.nagoya-u.ac.jp.
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
mesh_terms: D000293:Adolescent; D000483:Alleles; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D050794:STAT1 Transcription Factor / Q000235:genetics*; D014376:Tuberculosis / Q000175:diagnosis / Q000235:genetics* / Q000382:microbiology
chemical_list: D050794:STAT1 Transcription Factor