Mutation 1623_1624delGCinsTTand IL-12Rb1 Deficiency: A Mutational Founder Effect on the Most Frequently Affected Gene for Mendelian Susceptibility to Mycobacterial Disease

mendelian susceptibility to mycobacterial disease due to il-12rβ1 deficiency in three iranian children

mendelian susceptibility to mycobacterial diseases (msmd) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following bcg vaccination at birth. regarding the vaccination program in iran, it may consider as a public health problem. the pathogenesis of msmd is dependent on either insufficient production of ifn-gamma (γ) or inadequate response...

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response...

Mendelian susceptibility to mycobacterial infections

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...

A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.

Mutations in IFNGR1, IFNGR2, IL12RB1, IL12B, STAT1 and NEMO result in a common clinical phenotype known as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency is the most common genetic etiology for MSMD. Known mutations affecting IL12RB1 are recessively inherited and are associated with null response to both IL-12 and IL-23. Mutatio...