A novel double hemizygous BTK mutation in a boy presenting with Pseudomonas skin abscesses

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 patient...

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Veröffentlicht in:	Clinical and experimental dermatology 2022-06, Vol.47 (6), p.1218-1221
Hauptverfasser:	Guler, Tugba, Emiroglu, Melike, Duymus, Fahrettin, Marzioglu Ozdemir, Ebru, Artac, Hasibe
Format:	Artikel
Sprache:	eng
Schlagworte:	Abscess - genetics Abscesses Agammaglobulinemia - diagnosis Agammaglobulinemia - genetics Bruton's tyrosine kinase Genetic Diseases, X-Linked - diagnosis Genetic Diseases, X-Linked - genetics Humans Male Mutation Pseudomonas Skin Diseases Skin lesions
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Zusammenfassung:	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.
ISSN:	0307-6938 1365-2230
DOI:	10.1111/ced.15125