A novel double hemizygous BTK mutation in a boy presenting with Pseudomonas skin abscesses.
Journal
Clinical and experimental dermatology
ISSN: 1365-2230
Titre abrégé: Clin Exp Dermatol
Pays: England
ID NLM: 7606847
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
revised:
01
02
2022
received:
28
11
2021
accepted:
02
02
2022
pubmed:
15
3
2022
medline:
7
6
2022
entrez:
14
3
2022
Statut:
ppublish
Résumé
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.
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1218-1221Informations de copyright
© 2022 British Association of Dermatologists.
Références
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European Society for Immunodeficiencies. Clinical working party diagnostic criteria for PID. 2021. Available at; https://esid.org/Working-Parties/Clinical-Working-Party/Resources/Diagnostic-criteria-for-PID2#Q15 (accessed 14 September 2021).
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