Common Variable Immunodeficiency (CVID)
What?
CVID: Immunodeficiency disorder with hypogammaglobulinemia -> increased infection risk secondary to impaired B-cell differentiation.
Who?
• Affects 1:25,000 and 1:50,000 patients
• Avg age of DX: 20 -> 40 years
• Can present in middle to late childhood and late adulthood
• Diagnosis may take 6 to 8 years
Clinical Presentation
• 94% of patients with CVID have a history of recurrent infections
• 68% have noninfectious complications including:
• Autoimmunity
• Chronic lung disease
• Bronchiectasis
• Gastrointestinal inflammatory disease
• Infectious diarrhea
• Malabsorption
• Granulomatous disease
• Liver diseases and hepatitis
• Lymphoma or other cancers: Most common - gastric and breast cancer
Granulomatous lymphocytic interstitial lung disease (GLILD):
Unique to CVID 20% of patients.
Chest CT:
• Ground-glass opacities
• Nodules
• Lymphoid hyperplasia
When to Suspect?
• Atypical microorganisms or who have frequent and severe community-acquired infections: Pneumonia
• Autoimmune cytopenias (specifically immune thrombocytopenia and autoimmune hemolytic anemia)
• Systemic granulomatous conditions
Diagnosis:
• Low serum IgG level X2 at least 3 weeks apart (unless levels are less than 100 to 300 mg/dL)
• Low serum IgA and/or IgM, age greater than 4 years
• No other explanation for the low levels
ORDER: Total serum immunoglobulin A, E, G, and M panel
Management:
• Lifelong IV or subcutaneous immunoglobulin replacement therapy
• Monitor trough levels of IgG every 6 months to ensure serum levels are within normal range.
DDX - Other causes of hypogammaglobulinemia:
• Nephrotic syndrome
• Burns
• Protein-losing enteropathies
• Malignancies
• Chronic infections (Epstein-Barr syndrome, HIV)
• Glucocorticoid use
• Antimalarials
• Immunotherapies
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