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Updated: Dec 4 2021

Selective IgA Deficiency

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  • Snapshot
    • A 7-year-old patient presents to the emergency room after a motor vehicle accident, in which she loses a lot of blood. She is immediately transfused with blood. However, she develops difficulty breathing and oral-facial swelling. Physical exam reveals expiratory wheezes. She is immediately given epinephrine. On further questioning, physical exam reveals atopic dermatitis and recurrent ear and lung infections.
  • Introduction
    • Primary immunodeficiency with decreased levels of IgA
    • Epidemiology
      • most common primary immunodeficiency
    • Pathogenesis
      • B-cells fail to differentiate into IgA-producing plasma cells
      • unknown cause
      • impairs mucosal immunity, leading to sinopulmonary infections
    • Associated conditions
      • increased incidence of autoimmune diseases
      • celiac disease
      • atopy
        • allergies
        • atopic dermatitis
        • asthma
  • Presentation
    • Symptoms
      • most = asymptomatic
      • sinus and lung infections
      • GI infections
      • anaphylaxis with exposure to blood products with IgA
  • Evaluation
    • Diagnosis based on clinical history
    • Serology
      • ↓ IgA (< 7 mg/dL)
      • normal IgG, IgM, and IgE
      • false positive β-HCG
  • Differential
    • Common variable immunodeficiency
    • IgG deficiency
    • Ataxia-telangiectasia (↓ IgA, IgG, and IgE)
    • Hyper-IgM syndrome (↓ IgA, IgG, IgE, and ↑ IgM)
  • Treatment
    • Usually no specific treatment
    • Antibiotics as needed for infections
    • Immunizations
    • Blood transfusions
      • obtain blood from IgA-deficient donor
  • Prognosis, Prevention, and Complications
    • Prognosis
      • typically very good
      • some patients spontaneously develop normal IgA levels
    • Prevention
      • avoid blood transfusions unless from IgA-deficient individual
    • Complications
      • recurrent sinopulmonary infections
      • diarrhea from giardiasis
      • fatal anaphylaxis
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