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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