A novel double hemizygous BTK mutation in a boy presenting with Pseudomonas skin abscesses.
Clin Exp Dermatol
; 47(6): 1218-1221, 2022 Jun.
Article
en En
| MEDLINE
| ID: mdl-35285048
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades de la Piel
/
Agammaglobulinemia
/
Enfermedades Genéticas Ligadas al Cromosoma X
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Humans
/
Male
Idioma:
En
Revista:
Clin Exp Dermatol
Año:
2022
Tipo del documento:
Article
País de afiliación:
Turquía