RESUMO
We report a patient with complete interleukin-12 receptor beta-1 deficiency associated with cutaneous leukocytoclastic vasculitis. The patient experienced Bacille Calmette Guérin, Mycobacterium chelonae, and Salmonella enteritidis infection. Vasculitis affecting both small arteries and postcapillary venules due to deposition of immune complexes was probably caused by S. enteritidis and/or M. chelonae infection.
Assuntos
Receptores de Interleucina/deficiência , Vasculite Leucocitoclástica Cutânea/microbiologia , Animais , Bovinos , Criança , Consanguinidade , Feminino , Humanos , Infecções por Mycobacterium não Tuberculosas/diagnóstico , Infecções por Mycobacterium não Tuberculosas/tratamento farmacológico , Mycobacterium bovis/isolamento & purificação , Mycobacterium chelonae/isolamento & purificação , Abscesso do Psoas/microbiologia , Receptores de Interleucina-12 , Infecções por Salmonella/diagnóstico , Infecções por Salmonella/tratamento farmacológico , Salmonella enteritidis/isolamento & purificação , Esplenomegalia/cirurgia , Tuberculose Bovina/diagnóstico , Tuberculose Bovina/tratamento farmacológico , Vasculite Leucocitoclástica Cutânea/tratamento farmacológicoRESUMO
BACKGROUND: Paracoccidioides brasiliensis is a facultative intracellular dimorphic fungus that causes paracoccidioidomycosis (PCM), the most important deep mycosis in Latin America. Only a small percentage of individuals infected by P. brasiliensis develop clinical PCM, possibly in part because of genetically determined interindividual variability of host immunity. However, no primary immunodeficiency has ever been associated with PCM. METHODS: We describe the first patient, to our knowledge, with PCM and a well-defined primary immunodeficiency in the beta 1 subunit of the interleukin (IL)-12/IL-23 receptor, a disorder previously shown to be specifically associated with impaired interferon (IFN)-gamma production, mycobacteriosis, and salmonellosis. RESULTS: Our patient had a childhood history of bacille Calmette-Guérin disease and nontyphoid salmonellosis and, at the age of 20 years, presented to our clinic with a disseminated (acute) form of PCM. He responded well to antifungal treatment and is now doing well at 24 years of age. CONCLUSIONS: This unique observation supports previous studies of PCM suggesting that IL-12, IL-23, and IFN-gamma play an important role in protective immunity to P. brasiliensis. Tuberculosis and PCM are thus not only related clinically and pathologically, but also by their immunological pathogenesis. Our study further expands the spectrum of clinical manifestations of inherited defects of the IL-12/IL-23-IFN-gamma axis. Patients with unexplained deep fungal infections, such as PCM, should be tested for defects in the IL-12/IL-23-IFN- gamma axis.