Chronic granulomatous disease associated with common variable immunodeficiency - 2 clinical cases

Area of Science:

• Immunology
• Pathology

Background:

• Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by impaired antibody production.
• Granulomatous disease associated with CVID (GD-CVID) is a rare but significant manifestation, presenting with granulomatous lesions in various organs.
• These lesions are histologically similar to sarcoidosis, posing diagnostic challenges.

Observation:

• Two cases of GD-CVID are presented in adult males with CVID.
• Case 1: A 39-year-old male with asymptomatic CVID, thrombocytopenia, and mediastinal-hilar adenopathies, diagnosed with GD-CVID via bone marrow biopsy and treated with corticotherapy.
• Case 2: A 38-year-old male with CVID experienced constitutional symptoms and mediastinal/hilar adenopathies with non-necrotizing granulomatous infiltrate, showing spontaneous resolution.

Findings:

• GD-CVID can present with diverse clinical symptoms and radiological findings.
• Histopathological examination is key to diagnosing granulomatous involvement in CVID patients.
• Treatment approaches, including corticotherapy, may lead to clinical improvement, while spontaneous resolution is also possible.

Implications:

• GD-CVID requires increased clinical awareness due to its rarity and potential to mimic other granulomatous diseases like sarcoidosis.
• Dissemination of knowledge regarding GD-CVID is essential for accurate diagnosis and timely management.
• Further research into the pathogenesis and optimal treatment strategies for GD-CVID is warranted.