Rapid and precise diagnosis of pulmonary infection in a HIV-negative patient with autosomal-dominant mutation: a case report.

BACKGROUND

, also named , is an opportunistic pathogen that can cause systemic or limited infection in human beings. This infection is especially common in human immunodeficiency virus (HIV)-infected hosts; however, it has also been recently reported in HIV-negative hosts. Here, we report a very rarely seen case of pulmonary infection in a non-HIV-infected patient with () mutation.

CASE PRESENTATION

A 34-year-old woman was admitted to our hospital for uncontrollable nonproductive cough and dyspnea with exercise. She had been immunocompromised since infancy. Computerized tomography scan showed multiple ground glass opacities with multiple bullae in both lungs. Next generation sequencing (NGS) of the bronchoalveolar lavage fluid identified nucleotide sequences. Culture of bronchoscopy specimens further verified the results. The patient was HIV negative, and blood gene detection indicated mutation. To date, following the application of itraconazole, the patient has recovered satisfactorily.

CONCLUSION

In clinical practice, infection among HIV-negative individuals is relatively rare, and we found that patients who are congenitally immunocompromised due to mutation may be potential hosts. Early diagnosis and timely treatment are expected to improve the prognosis of infection. NGS is a powerful technique that may play an important role in this progress. .