[Chronic granulomatous disease: three cases with different presentations].

Area of Science:

• Immunology
• Genetics

Background:

• Chronic granulomatous disease (CGD) is a rare primary immunodeficiency.
• It stems from a deficit in the NADPH oxidase complex, impairing reactive oxygen species generation.
• This leads to increased susceptibility to bacterial and fungal infections.

Observation:

• Presents three case reports of CGD, including two related individuals.
• Highlights common clinical manifestations such as recurrent infections, abscesses, adenitis, and granulomas.
• Notes the achievement of molecular diagnosis in one case.

Findings:

• CGD exhibits varied presentations, often with X-linked or autosomal recessive inheritance.
• Timely diagnosis is essential for effective management and preventing severe complications.
• Recurrent infections, abscesses, adenitis, and granulomas are key diagnostic indicators.

Implications:

• Emphasizes the importance of early diagnosis and genetic counseling for CGD patients and families.
• Recommends antimicrobial prophylaxis and aggressive infection management.
• Underscores the need for timely diagnosis to avoid long-term complications.