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Snapshot
  • A 26-year-old man with no significant past medical history presents with a prolonged period of cough and repeated sinus infections. He also reports persistent watery diarrhea. His physician orders immunoglobulin levels, which come back with decreased IgA and IgG, but normal IgM. Plasma cells are also decreased. There is no family history of immunodeficiencies.
Introduction
  • CVID is an immunodeficiency arising from B-cell dysfunction
  • Pathogenesis
    • unknown except that etiology is heterogeneous
    • defect in B-cell differentiation
    • no clear pattern of inheritance
  • Can be acquired in young adulthood
  • Associated conditions
    • at increased risk for autoimmune diseases
      • alopecia areata
      • granulomatous diseases
    • at increased risk for lymphoma
Presentation
  • Symptoms
    • recurrent sinopulmonary infections
    • permanent damage to lungs
      • bronchiectasis
    • persistent diarrhea
      • Giardia lamblia
  • Physical exam
    • generalized lymphadenopathy
    • splenomegaly
Evaluation
  • ↓ B-cells that produce antibodies (plasma cells)
  • ↓ All immunoglobulin classes, especially IgA and IgG
  • Lymph node biopsy – to exclude malignancy
    • reactive follicular hyperplasia
Differential Diagnosis
  • X-linked agammaglobulinemia
  • Sarcoidosis
  • SCID
Treatment
  • IVIG replacement therapy
  • Antibiotics
Prognosis, Prevention, and Complications
  • Complications
    • common cause of death in patients with CVID
      • lymphoma
    • ~20% develop autoimmune diseases
 

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