A 5-month-old boy presented with spontaneous nose bleeds and bloody diarrhea. There is also a history of recurrent chest and ear infections for which he was frequently hospitalized. On examination, it was found that the he was suffering from atopic dermatitis and had petechiae all over the body. Lab findings suggested abnormally low platelet counts along with eosinophilia and the peripheral blood smear is given below. All of the following statements are true about the above condition except: –
Correct Answer: Low IgM and IgG levels
Description: This clinical picture is classical triad of Wiskott-Aldrich syndrome (WAS) characterized by eczema-thrombocytopenia-immunodeficiency It is caused due to mutations in the gene encoding Wiskott-Aldrich syndrome protein (WASP), which is located at Xp11.23 It has an X linked recessive pattern of inheritance. The thymus is morphologically normal, at least early in the course of the disease. But there is progressive loss of T lymphocytes in the peripheral blood and in the T-cell zones (paracoical areas) of the lymph nodes, with variable defects in cellular immunity. IgM levels in the serum are low, but levels of IgG are usually normal. Paradoxically the levels of IgA and IgE are often elevated. Patients are also prone to developing B-cell lymphomas.
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