title: Augmentation of antitubercular therapy with IFNγ in a patient with dominant partial IFNγ receptor 1 deficiency.
abstract: Osteomyelitis due to Mycobacterium bovis Bacille Calmette-Guerin (BCG) often develops in patients with interferon-γ receptor 1 (IFNγR1) deficiency. In these patients, susceptibility appears to be caused by impaired interleukin-12- and IFNγ-mediated immunity. Here we report the case of a one-year-old girl with dominant partial IFNγR1 deficiency who suffered from lymphadenitis and multiple sites of osteomyelitis due to BCG infection. She was allergic to isoniazid and rifampicin--the prescribed standard treatment--and required prior desensitization therapy. She was subsequently treated with these drugs, but her symptoms did not improve. IFNγ therapy was added to the antitubercular therapy, increasing the serum level of IFNγ and leading to the resolution of the lymphadenitis and osteomyelitis. In conclusion, high dose IFNγ therapy in combination with antitubercular drugs led to resolution of BCG infection in a patient with dominant partial IFNγ deficiency.
authors: Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors: Kanako
authors: K
authors: Takeda
authors: Department of Human Genetics, National Center for Child Health and Development, Tokyo, Japan. Electronic address: kawai-t@ncchd.go.jp.
authors: Toshinao
authors: T
authors: Kawai
authors: Department of Human Genetics, National Center for Child Health and Development, Tokyo, Japan.
authors: Yumiko
authors: Y
authors: Nakazawa
authors: Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors: Hisako
authors: H
authors: Komuro
authors: Division of Infectious Diseases, Department of Medical Subspecialties, National Center for Child Health and Development, Tokyo, Japan.
authors: Kensuke
authors: K
authors: Shoji
authors: Division of Allergy, Department of Medical Subspecialties, National Center for Child Health and Development, Tokyo, Japan.
authors: Kumiko
authors: K
authors: Morita
authors: Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
authors: Tomohiro
authors: T
authors: Katsuta
authors: Department of Human Genetics, National Center for Child Health and Development, Tokyo, Japan.
authors: Matsuri
authors: M
authors: Yamamoto
authors: Division of Infectious Diseases, Department of Medical Subspecialties, National Center for Child Health and Development, Tokyo, Japan.
authors: Isao
authors: I
authors: Miyairi
authors: Division of Allergy, Department of Medical Subspecialties, National Center for Child Health and Development, Tokyo, Japan.
authors: Yukihiro
authors: Y
authors: Ohya
authors: Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan.
authors: Akira
authors: A
authors: Ishiguro
authors: Department of Human Genetics, National Center for Child Health and Development, Tokyo, Japan.
authors: Masafumi
authors: M
authors: Onodera
mesh_terms: D000995:Antitubercular Agents / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D005260:Female; D015870:Gene Expression; D006801:Humans; D007223:Infant; D007371:Interferon-gamma / Q000627:therapeutic use; D018664:Interleukin-12 / Q000235:genetics / Q000276:immunology; D007538:Isoniazid / Q000627:therapeutic use; D009163:Mycobacterium bovis / Q000276:immunology / Q000472:pathogenicity; D010019:Osteomyelitis / Q000150:complications / Q000188:drug therapy* / Q000276:immunology; D017471:Receptors, Interferon / Q000172:deficiency* / Q000276:immunology; D012293:Rifampin / Q000627:therapeutic use; D014388:Tuberculosis, Lymph Node / Q000150:complications / Q000188:drug therapy* / Q000276:immunology; D014777:Virus Diseases / Q000150:complications / Q000188:drug therapy* / Q000276:immunology
chemical_list: D000995:Antitubercular Agents; D017471:Receptors, Interferon; D018664:Interleukin-12; D007371:Interferon-gamma; D007538:Isoniazid; D012293:Rifampin
keywords: Interferon-γ; Interferon-γ receptor 1 deficiency;; Mendelian susceptibility to mycobacterial diseases;; Mycobacterium bovis Bacille Calmette–Guerin;; Osteomyelitis;