A patient comes with Thrombocytopenia, eczema and recurrent infections. What is the most probable diagnosis?
ANSWER: (A) Wiskott Aldrich syndromeREF: Harrisons 17th ed chapter 310WISKOTT-ALDRICH SYNDROME:This X-linked disease characterized by eczema, thrombocytopenia, and repeated infections is caused by mutations in the WASP gene.Affected male infants often present with bleeding, and most do not survive childhood, dying of complications of bleeding, infection, or lymphoreticular malignancy.The immunologic defects include low serum concentrations of IgM, while IgA and IgG are normal and IgE is frequently increased.Although the number and class distribution of B lymphocytes are usually normal, these patients fail to make antibodies to polysaccharide antigens normally, and responses to protein antigens may be impaired late in the course of the disease.Most patients eventually acquire severe T cell deficiency, rendering them vulnerable to overwhelming infections with herpes simplex virus and other infectious agents.
Wiskott Aldrich syndrome
A beta gamaglobulinemia
Chediak hegashi syndrome
Lazy leukocyte syndrome
Platelet Disorders