title: Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India.
abstract: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by clinical disease caused by weakly virulent mycobacteria. All genes mutated in MSMD patients are involved in IFN-γ immunity. Autosomal partial dominant (PD) interferon-γ receptor 1 (IFN-γR1) deficiency is the most frequent abnormality affecting the group of MSMD patients leading to impaired response of IFN-γ. We describe here a patient from India with disseminated infection due to Mycobacterium avium intracellulare (MAC) including multifocal osteomyelitis and BCG disease. A heterozygous mutation in exon 6 of IFNGR1 gene was identified, conferring an autosomal PD IFN-γR1 deficiency. Patient had recurrence of mycobacterial disease during antibiotic therapy for which subcutaneous IFN-γ was added as a modality of treatment for resistant MAC infection.
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India, drvarun1983@gmail.com.
authors.forename: Varun K
authors.initials: VK
authors.lastname: Sharma
authors.forename: Gautham
authors.initials: G
authors.lastname: Pai
authors.forename: Caroline
authors.initials: C
authors.lastname: Deswarte
authors.forename: Rakesh
authors.initials: R
authors.lastname: Lodha
authors.forename: Sarman
authors.initials: S
authors.lastname: Singh
authors.forename: Liew Woei
authors.initials: LW
authors.lastname: Kang
authors.forename: Chong Chia
authors.initials: CC
authors.lastname: Yin
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.forename: Sushil K
authors.initials: SK
authors.lastname: Kabra
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D002648:Child; D004359:Drug Therapy, Combination; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007194:India; D007371:Interferon-gamma / Q000627:therapeutic use; D008297:Male; D009154:Mutation / Q000235:genetics; D015269:Mycobacterium avium Complex / Q000276:immunology*; D015270:Mycobacterium avium-intracellulare Infection / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D010019:Osteomyelitis / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D017471:Receptors, Interferon / Q000235:genetics*; D000096743:Interferon gamma Receptor
chemical_list: D000900:Anti-Bacterial Agents; D007371:Interferon-gamma; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor