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A novel double hemizygous BTK mutation in a boy presenting with Pseudomonas skin abscesses
Tugba Guler1, Melike Emiroglu2, Fahrettin Duymus3
1Division of Pediatric Immunology and Allergy, Selcuk University School of Medicine, Konya, Turkey.
Clinical and Experimental Dermatology
|March 14, 2022
Abstract:
Skin 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.

