Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

Impaired in-vitro responses to IL-12 and IFN-γ in Iranian patients with Mendelian susceptibility to mycobacterial disease.

INTRODUCTION Diagnosis of specific molecular defects of Mendelian susceptibility to mycobacterial diseases (MSMD) patients is important with respect to their clinical outcomes and their response to therapy. The aim of this study was to perform functional tests on blood samples of a group of patients who were suspected of having MSMD. METHODS This study was performed on 11 cases who had mycoba...

Mendelian susceptibility to mycobacterial infections

Inborn errors of immunity to infection

The immune system's function is to protect against microorganisms, but infection is nonetheless the most frequent cause of death in human history. Until the last century, life expectancy was only approximately 25 years. Recent increases in human life span primarily reflect the development of hygiene, vaccines, and anti-infectious drugs, rather than the adjustment of our immune system to coevolv...

Mendelian Susceptibility to Mycobacterial Disease in Egyptian Children

BACKGROUND Tuberculosis remains a major health problem in developing countries especially with the emergence of multidrug resistant strains. Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare disorder with impaired immunity against mycobacterial pathogens. Reported MSMD etiologies highlight the crucial role of the Interferon gamma /Interleukin 12 (IFN-γ/ IL-12) axis and the phag...

Epilepsy and inborn errors of metabolism: clinical and electroencephalographic features

Clinical and electroencephalographic phenotypes of the epilepsy in patients with inborn errors of metabolism are increasingly reported in the literature. The attempt to define several, disease-specific syndromes is a crucial point to allow early diagnosis and, when it is available, to perform a mirate treatment of the underlying disorder. Either dietary treatment or vitamin and cleasing agents ...