A 4 month old male is brought to your office by his parents for a wellness check. They are concerned about his repeated bouts of eczema and recurrent infections. He has a complicated medical history significant for bloody diarrhea and hard to control epistaxis during the second month of his life. Your physical examination found a feeble baby with eczema, dry blood in the perinatal region and splenomegaly. You ordered some routine labs for this patient. Later that evening a technician from the laboratory called you to inform you of some ‘red flag’ lab results, which are a platelet count of 60000/ platelets/µL with reduced sized platelets in clumps. Concerned about the possibility of an immunodeficiency disorder you ordered a genetic test, which revealed a genetic defect on the short arm of the X-chromosome. You called the parents to explain the lab results in the light of your clinical findings. How do you explain the pathogenesis of this disease to his parents?
