Review Question - QID 100464

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.

Davutoglu et al. provide an additional case report of Wiskott-Aldrich syndrome and discuss the eczematous findings typical of the disease. These infants can experience not only pruritis, xerosis, scaling and lichenification of the face, legs and trunk, but also exudative lesions. Complicated eczema is a characteristic finding of Wiskott-Aldrich sydnrome.

Illustration A shows eczema and bleeding in a child with Wiskott-Aldrich syndrome. Illustration B shows the purpuric rash seen in thrombocytopenic purpura.

Incorrect Answers:
Answer 2-3: Wiskott-Aldrich syndrome typically presents with isolated thrombocytopenia. WBCs and RBCs are not affected.

Answer 4: Pancreatic insufficiency is observed in cystic fibrosis.

Answer 5: NADPH oxidase deficiency is characteristic of chronic granulomatous disease.