Misdiagnosis of common variable immune deficiency

Area of Science:

• Immunology
• Pulmonology
• Rheumatology

Background:

• Sarcoidosis is an inflammatory disease characterized by granulomatous inflammation.
• Common variable immune deficiency (CVID) is a primary immunodeficiency often presenting later in life.

Observation:

• A patient initially diagnosed with sarcoidosis presented with bilateral hilar lymphadenopathy and pulmonary infiltrates.
• The patient later developed splenomegaly, idiopathic thrombocytopenic purpura (ITP), and severe cavitating pneumonia.
• Serum immunoglobulin analysis revealed panhypogammaglobulinaemia, prompting a diagnostic revision to CVID.

Findings:

• CVID can present with granulomatous organ involvement, mimicking sarcoidosis.
• ITP is a common autoimmune complication of CVID.
• Panhypogammaglobulinaemia is a key laboratory finding in CVID.

Implications:

• Prompt recognition of CVID is essential for initiating immunoglobulin replacement therapy.
• Early treatment reduces infection frequency and secondary disease complications.
• Serum immunoglobulin testing should be considered in suspected sarcoidosis cases to avoid misdiagnosis and treatment delays.
• Current sarcoidosis guidelines may require revision to include CVID screening.