1. Clinical and immunological profile of children with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) from an Indian tertiary care hospital
- Author
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Jacinta Bustamante and C. K. Indumathi
- Subjects
Male ,Tuberculosis ,India ,Mycobacterium Infections, Nontuberculous ,Diagnosis, Differential ,Tertiary Care Centers ,03 medical and health sciences ,symbols.namesake ,Germline mutation ,Immunity ,Humans ,Medicine ,Genetic Predisposition to Disease ,Interferon gamma ,Interleukin 12 receptor, beta 1 subunit ,Receptors, Interferon ,0303 health sciences ,Innate immune system ,030306 microbiology ,business.industry ,Receptors, Interleukin-12 ,Infant ,Tertiary care hospital ,medicine.disease ,Infectious Diseases ,Immunology ,Mendelian inheritance ,symbols ,Female ,business ,medicine.drug - Abstract
Inherited disorders of interferon gamma (IFN) γ, also known as Mendelian Susceptibility to Mycobacterial Diseases (MSMD), have been classified as Primary Immuno Deficiency 6, ie, defect in intrinsic and innate immunity. As IFN-γ plays an important role in conferring immunity to mycobacterial infections, its disorders have been increasingly reported in association with disseminated BCG/Non Tubercular Mycobacterial infections. So far germline mutations in 16 genes have been reported, most common being IL12RB1 followed by IFNGR1 and IFNGR2. There is limited published data on MSMD from India and here we report 4 unrelated children with proven mutations in IL12RB1 in 2 children and IFNGR1 and IFNGR2 in one each with disseminated opportunistic mycobacterial infections from a tertiary care centre in India.
- Published
- 2021
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