Disseminated Tuberculosis in a Patient with Autosomal Recessive p47phox Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is an inborn error of immunity in which one of the subunits of the NADPH oxidase complex that produces reactive oxygen substances for the destruction of microorganisms and modulation of inflammation is affected. We present a patient with disseminated tuberculosis with a pathogenic variant in the NCF1(p47phox) gene responsible for autosomal recessive (AR) CGD.
Case presentation
The patient was a 28-year-old female patient with a history of first-degree consanguinity between her parents. She denied adverse reaction to BCG vaccination. She presented multiple pneumonias and lymphadenitis during childhood. At the age of eleven years through the neutrophil itroblue tetrazolium reduction test, she was diagnosed with CGD AR (NCF1). She started prophylactic treatment with itraconazole and trimethoprim sulfamethoxazole with irregular adherence. At 28 years of age she presented distal ileum perforation, so a laparotomy was performed finding multiple micronodules in the peritoneum suggestive of tuberculosis. Due to clinical complications she required mechanical ventilation and admission to the intensive care unit. Seven weeks later he was extubated. An empirical antituberculosis regimen was started. Weeks later M. tuberculosis was isolated in endotracheal culture. Currently she finished her antifungal regimen, awaiting colostomy closure and continues prophylaxis with itraconazole and trimethoprim sulfamethoxazole.
Patients with CGD are susceptible to infection by mycobacteria of the M. tuberculosis complex. Deficiency of p47phox has been described in terms of severity as a mild form of CGD. This case illustrates that M. tuberculosis can occur in autosomal recessive forms and not only in severe forms of X-linked CGD. These patients are susceptible to mycobacteria, not only in childhood, but also in adulthood, regardless of the fact that they have not had an adverse reaction to BCG.

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