MEDizzy - A 10-year-old boy is referred to you following his 7th

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Combined Hematology

A 10-year-old boy is referred to you following his 7th course of antibiotics for lower respiratory tract infection in the last 6 years. He has difficult to control eczema for which he is currently on a topical steroid cream. His bloods are as follows Hb 139 g/l Platelets 65 * 109/l WBC 12.3 * 109/l In which of the following genes may you expect to see an abnormality?

ExplanationA. The combination of frequent infections, eczema and thrombocytopenia are characteristic of the Wiskott-Aldrich syndrome, which is caused by an abnormality in the WASP gene. The PKD1 gene is associated with polycystic kidney disease, CFTR with cystic fibrosis, HFE1 with haemochromatosis and RET an oncogene associated with multiple endocrine neoplasia and also Hirschsprung's disease.