Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation.
Immunol Lett
; 177: 22-4, 2016 09.
Article
en En
| MEDLINE
| ID: mdl-27378136
ABSTRACT
Herein we describe the case of a 8-years-old boy with diagnosis of atypical autoimmune lymphoproliferative syndrome (ALPS), carrying heterozygous mutation of CASP10 gene (I406L). He presented with multiple non-invasive infections of the skin, that were associated to chronic non-malignant non-infectious lymphadenopathy, failure to thrive, weakness, arthralgia, relapsing oral aftosis, and expansion of TCRαß(+) CD4(-)/CD8(-) T cells. This observation suggests that cutaneous infections can be observed in ALPS patients carrying CASP10 mutations.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Piel
/
Linfocitos T
/
Caspasa 10
/
Síndrome Linfoproliferativo Autoinmune
/
Infecciones
Idioma:
En
Revista:
Immunol Lett
Año:
2016
Tipo del documento:
Article