For these reasons, the aim of this work is to detect and describe up to 100 Colombian patients affected with MSMD and to define the molecular basis of the syndrome using a combination of clinical, immunological and next-generation genetics tools to characterize the mutations and their functional consequences in the genes of the IFN-gamma circuit associated with this syndrome.
If your browser does not accept cookies, you cannot view this site.
There are many reasons why a cookie could not be set correctly.
To provide access without cookies would require the site to create a new session for every page you visit, which slows the system down to an unacceptable level.
This site stores nothing other than an automatically generated session ID in the cookie; no other information is captured.
In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie.
For example, the site cannot determine your email name unless you choose to type it.
Allowing a website to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it.
Mendelian susceptibility to mycobacterial diseases (MSMD) is a congenital syndrome that stems from exposure to weakly virulent mycobacteria such as BCG vaccines and non-tuberculous environmental mycobacteria (EM), resulting in severe, localized or disseminated clinical disease, in otherwise healthy patients.
Patients with MSMD are also vulnerable to the more virulent Mycobacterium tuberculosis (Mtb), as well as to salmonellosis and candidiasis, and more rarely to infections with other intramacrophagic bacteria, fungi, or parasites, and even, perhaps, a few viruses.
To date, mutations causing MSMD have been identified in nine genes (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, IRF8, ISG15, NEMO, and CYBB), being the autosomal recessive (AR) complete IL-12Rβ1 deficiency the most common genetic etiology of MSMD.