A genetically determined susceptibility to mycobacterial disease due to a specific
immunological deficiency has been described [1, 2]. Although known as Mendelian …

Abstract Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a relatively new term
that describes a spectrum of inherited defects in the IL-12/23 and IFN-γ pathways that result …

Hereby we report a case of an 8-y-old boy, second born of five children, born of third degree
consanguineous marriage, brought with c/o fever on and off and multiple swellings over the …

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 …

Abstract Mendelian Susceptibility to Mycobacterial Disease describes a spectrum of
inherited defects, of which complete deficiency of the interleukin-12 receptor β subunit 1 (IL …

Defects in interferon-γ axis have been shown to be associated with disseminated
mycobacterial disease. A case of a previously healthy HIV seronegative child with …

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by clinical disease caused by weakly virulent mycobacteria. All genes mutated in MSMD …

Tuberculosis is a major worldwide problem, and protection from it is achieved mainly by live
attenuated bacille Calmette–Guérin vaccine, which is capable of causing disease in …

Background. Mendelian susceptibility to mycobacterial diseases (MSMD) is an inborn error
of immunity categorized as defects in intrinsic and innate immunity. MSMD is characterized …

An 11-year-old girl who presented with disseminated tuberculosis associated with
secondary hemophagocytosis received a diagnosis of interleukin-12 receptor β1 chain …