An 11-year-old boy was brought to the pediatric OPD with multiple abscesses over his face, chest, and back. The child has a history of recurrentrespiratory infections. On examination, he has atopic excoriating skin and multiple cold abscesses on his back. What is the most probable diagnosis?
From the above clinical history and examination, the most probable diagnosis is Hyper IgE syndrome (Job's syndrome). It is an autosomal dominant primary immunodeficiency disease caused by a mutation of STAT3 gene. Neutrophils do not generate an immune response, probably due to a defect in chemotaxis. Patients present with recurrent staphylococcal skin abscesses, recurrent lung infections (pneumatoceles), eczema, eosinophilia and high serum levels of lgE. Reference: Ananthanarayan and Paniker&;s Textbook of Microbiology Tenth edition
Hyper IgE syndrome
Hyper IgM syndrome
Carcinoid syndrome
Wiskott aldrich syndrome
Immunology