A novel double hemizygous BTK mutation in a boy presenting withPseudomonasskin abscesses

• DOI: 10.1111/ced.15125
• Publication Date: 2022-03-14T08:48:42Z
• Authors: Tugba Guler; Melike Emiroglu; Fahrettin Duymus; Ebru Marzioglu Oz...; Hasibe Artac
• Keywords: Male; 03 medical and health sciences; 0302 clinical medicine; Agammaglobulinemia; Pseudomonas; Mutation; Humans; Genetic Diseases, X-Linked; Skin Diseases; Abscess; 3. Good health

AbstractSkin manifestations can serve as critical clues for early diagnosis of inborn errors of immunity. We report a patient with a double novel mutation in the BTK gene, who presented with skin abscesses caused by Pseudomonas aeruginosa. This case illustrates the importance of immune evaluation in patients with therapy-resistant skin lesions.