A 4-year-old boy is evaluated for recurrent respiratory infections, eczema, and petechiae. Laboratory studies show thrombocytopenia, decreased IgM levels, with increased IgA and IgE. What is the most probable diagnosis?
Solution
Correct Answer: Option A
- The presentation of a young boy with recurrent respiratory infections, eczema, and petechiae along with thrombocytopenia and an immunoglobulin pattern of decreased IgM and increased IgA and IgE is characteristic of Wiskott-Aldrich syndrome.
- This X-linked immunodeficiency results from defects in the WAS gene, leading to abnormal platelet formation (causing thrombocytopenia with small platelets) and impaired T-cell function causing susceptibility to infections.
- The altered immunoglobulin profile with low IgM and elevated IgA and IgE further supports this diagnosis.
- The triad of eczema, thrombocytopenia, and recurrent infections is pathognomonic of this syndrome.
Reference: Davidson’s Principles and Practice of Medicine, 24th Edition, Chapter: Immunodeficiency, Page 506.
- This X-linked immunodeficiency results from defects in the WAS gene, leading to abnormal platelet formation (causing thrombocytopenia with small platelets) and impaired T-cell function causing susceptibility to infections.
- The altered immunoglobulin profile with low IgM and elevated IgA and IgE further supports this diagnosis.
- The triad of eczema, thrombocytopenia, and recurrent infections is pathognomonic of this syndrome.
Reference: Davidson’s Principles and Practice of Medicine, 24th Edition, Chapter: Immunodeficiency, Page 506.
Practice More Questions on Our App!
Download our app for free and access thousands of MCQ questions with detailed solutions