Article
A novel double hemizygous BTK mutation in a boy presenting with Pseudomonas skin abscesses.
Clinical and experimental dermatology - 1 Jun 2022
Guler Tugba, Emiroglu Melike, Duymus Fahrettin, Marzioglu Ozdemir Ebru, Artac Hasibe
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.