A 8-year-old boy presents to your office with facial eczema. He has a history of multiple, recurrent infections, including multiple episodes of pneumonia that lasted several weeks and otitis media. Laboratory measurements of serum immunoglobulins showed increased IgE and IgA but decreased IgM. Which of the following additional abonormalities would you expect to observe in this patient?
1.Thrombocytopenia
2.Leukopenia
3.Anemia
4.Pancreatic insufficiency
5.NADPH oxidase deficiency
sol:
The patient in the question stem is suffering from Wiskott-Aldrich syndrome, a congenital immunodeficiency. Wiskott-Aldrich syndrome presents with the classic triad of “TIE”: (1) thrombocytopenic purpura (2) infections (3) eczema.
Wiskott-Aldrich syndrome is an inherited (X-linked) immunodeficiency caused by mutations in the WASP gene. Partial B and T cell deficiency result from defects in a cytoskeletal glycoprotein. A loss of cellular and humoral immune response results. Decreased IgM with increased IgA and IgE are classic findings.
According to a case report by Syrigos et al. on which the above question stem is based, treatment of Wiskott-Aldrich syndrome is mainly supportive. Patients should be receive all appropriate immunizations and may require transfusions, steroids, IVIG, splenectomy and prophylactic antibiotics.
Illustration A shows eczema and bleeding in a child with Wiskott-Aldrich syndrome.
Illustration B shows the purpuric rash seen in thrombocytopenic purpura.