Common variable immunodeficiency presenting as sarcoidosis in a 9-year-old child

Area of Science:

• Pediatric immunology
• Granulomatous diseases
• Diagnostic challenges

Background:

• Granulomatous diseases present with diverse clinical features, often mimicking other conditions.
• Sarcoidosis is a key differential diagnosis in granulomatous disorders.

Observation:

• A 9-year-old boy presented with symptoms suggestive of sarcoidosis, including cough, lymphadenopathy, hepatosplenomegaly, and fever.
• Initial investigations showed elevated inflammatory markers, angiotensin-converting enzyme, and FDG uptake on PET-CT.
• Biopsies confirmed granulomatous inflammation, leading to an initial sarcoidosis diagnosis.

Findings:

• Corticosteroid treatment provided only transient relief.
• Further testing revealed panhypogammaglobulinaemia and reduced B-memory lymphocytes.
• The diagnosis was revised to common variable immunodeficiency (CVID).

Implications:

• Differentiating CVID from sarcoidosis in pediatric granulomatous disease requires a step-by-step diagnostic approach.
• Early diagnosis of CVID is crucial for timely immunoglobulin replacement therapy.
• Accurate diagnosis reduces morbidity and mortality associated with CVID.