Article
[Bacillus Calmette-Guérin (BCG) disease and interleukin 12 receptor β1 deficiency: clinical experience of two familial and one sporadic case].
Revista chilena de infectologia : organo oficial de la Sociedad Chilena de Infectologia - 1 Aug 2014
Strickler Alexis, Pérez Amir, Risco Migdy, Gallo Silvanna
Abstract excerpt
BCG disease has been reported in primary and secondary immunodeficiency and as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Investigation of this syndrome has led to the identifications of a series of genetic, inherited defects in the IL-12/IFN-γ axis. MSMD-causing mutations have been found in seven autosomal and two X-linked genes. In these patients, local or disseminated vaccine BCG infections are...
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