X-linked chronic granulomatous disease combined with disseminated nontuberculous mycobacteria and fungal infections: Diagnosis and treatment analysis.

ABSTRACT:

Rationale

X-linked chronic granulomatous disease (X-CGD) is a rare genetic immunodeficiency, predominantly affecting males. It leads to defective neutrophil function and increased susceptibility to infections, particularly nontuberculous mycobacteria and fungi. Early diagnosis is challenging due to its nonspecific symptoms.

Patient concerns

A 1-year-5-month-old male presented with recurrent lymphadenopathy, erythematous and ulcerative skin lesions, and persistent fever. These symptoms, along with pulmonary involvement, raised concerns for infectious diseases, leading to a misdiagnosis of tuberculosis.

Diagnoses

Genetic testing revealed a hemizygous mutation in the CYBB gene, confirming the diagnosis of X-CGD. Further investigations identified Mycobacterium gordonae an

SUBMITTER: Huang W 

PROVIDER: S-EPMC12746978 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature