Immunodeficiencies

Question 1

• Recurrent sinopulmonary infections

- Decreased IgG, IgM, and IgA

Answer 1

Common Variable Immunodeficiency

• B cells are present in sufficient number, but reduced Ig subtypes due to impaired B cell isotope switching
• Treat: Abx for infections + IVIG

Question 2

• Recurrent infections with Staph or Aspergillus

- Lymph nodes may leak purulent material

Answer 2

Chronic Granulomatous Disease

• Impaired oxidative burst (due to decreased NADPH oxidase which generates superoxide)
• Dx: Nitroblue tetrazolium year

Question 3

• Recurrent sinopulmonary infections beginning at 6mo of age

- Deficiency in both B cells and T cells

Answer 3

Severe Combined Immunodeficiency

• Low T cells and B cells
• Analogous to HIV (e.g. fungal infections, candida, PCP)
• Tx: BMT

Question 4

• Recurrent sinopulmonary infections

- Atopic diseases and anaphylaxis with blood transfusions

Answer 4

IgA Deficiency

- Tx: treat infections as they arise and only use IgA-deficient donor blood

Question 5

• Recurrent skin infections with staphylococcus

Answer 5

Hyper IgE Syndrome

Question 6

• Low T cells, normal B cells
• Low platelets
• Eczema

Answer 6

Wiskott-Aldrich Syndrome

• an X-linked recessive defect in the WAS gene that results in impaired cytoskeleton remodeling in leukocytes and platelets
• Tx: BMT/HSC transplant

Question 7

• Male child with sinopulmonary infections

- Low B cells, normal T cells

Answer 7

X-linked (Bruton) Agammaglobulinemia