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X-linked Agammaglobulinemia
8%
24/319
Severe Combined Immunodefiency
7%
21/319
Wiskott-Aldrich Syndrome
73%
234/319
Primary Eczema
2%
5/319
Hyperimmunoglobulin E syndrome
9%
29/319
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This boy most likely has the diagnosis of Wiskott-Aldrich syndrome. He is presenting with the classic symptoms of eczema, pupura secondary to thrombocytopenia, epistaxis, and splenomegaly. Wiskott-Aldrich syndrome is an X-linked recessive disorder that often presents early in childhood in a fair male with recurrent bacterial infections, eczema, purpura, epistaxis, and splenomegaly. Epistaxis and purpura occur secondary the thrombocytopenia that is associated with this disorder. The diagnosis is typically made using the peripheral blood smear and low immunoglobulin level. In most cases IgM levels are low, and IgE and IgA levels are elevated. The mutated gene (WASp) has been identified on the short arm of the X chromosome. Reust discusses the diagnosis of children with primary immunodeficiencies. A family history of immunodeficiency is the greatest indicator of making the proper diagnosis. These patients often present with recurrent, unusual bacterial or fungal infections. The first step in diagnosis is a complete blood count and peripheral smear. Masaad et al. reviews the biochemistry associated with Wiskott-Aldrich syndrome. The WASp gene is expressed solely in hematopoietic cells. The protein itself plays an important role in relaying extracellular signals to the actin cytoskeleton of the cell. Mutations play a role in regulating the expression of the WASp gene, with more severe mutations resulting in a more severe disease phenotype. Illustration A displays the characteristic appearance of eczema seen in these patients. Illustration B displays the location of the WASp gene on the X chromosome. Incorrect Answers: Answer 1: X-linked agammaglobulinemia is associated with recurrent respiratory infections in childhood. This disease is not usually associated with eczema or thrombocytopenia. Answer 2: Patients with severe combined immunodeficiency are lacking B-cells and T-cells and present with severe infections early in life. Answer 4: Primary eczema is a skin-only condition that would unlikely present with these other symptoms Answer 5: Although this child likely has elevated IgE levels, "Hyper IgE syndrome" is associated with recurrent staphylococcus infections, and failure to lose their primary dentition.
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