Affiliations: Servicios de Inmunología, Hospital de Niños
"Dr. R. Gutiérrez", Buenos Aires, Argentina | Servicios de Anatomía Patológica, Hospital de
Niños "Dr. R. Gutiérrez", Buenos Aires, Argentina | Servicios de Tisiología, Hospital de Niños
"Dr. R. Gutiérrez", Buenos Aires, Argentina
Note: [] Correspondence: Dr. Liliana Bezrodnik, Pedro Goyena 3944,
Olivos Pcia de Buenos Aires, CP 1636 Argentina. Tel.: +54 011 15 44736327; +54
011 47942527; Fax: +54 011 47859844; E-mail: lbezrodnik@intramed.net.ar;
ddigio@intramed.net
Abstract: Mendelian susceptibility to mycobacterial disease is a rare
syndrome, which results in predisposition to clinical disease caused by poorly
virulent mycobacterial species such as the bacille Calmette-Guérin vaccines
and nontuberculous environmental mycobacteria. Such patients are also
susceptible to virulent Mycobacterium tuberculosis but rarely present
other unusual infectious diseases, with the exception of nontyphoid
Salmonella, which can affect around half of them. We report a boy with a novel
interleukin-12 receptor beta 1 deficiency, who developed BCG-osis and an
inflammatory myofibroblastic tumor when he was 11 months. Clinically IL12
deficiency should be considered in genetic diagnosis of patients with an
inherited IL12/INFγ axis and thymus affected. We do
not know if the novel genetic diagnosis of our patient could be a factor of
development of thymus lesion.
