Immune dysregulation syndrome caused by / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 397-401, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-879866
ABSTRACT
A boy, aged 4 years and 6 months, had disease onset of fever, cough, pale complexion, and weakness, with hepatosplenomegaly, lymphadenectasis, and pancytopenia. He had been having repeated respiratory and digestive tract infections. Gene detection showed a pathogenic heterozygous mutation, c.C2147 > T(p.T716M), in the
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Síndrome
/
Factor de Transcripción STAT3
/
Fiebre
/
Heterocigoto
/
Enfermedades del Sistema Inmune
/
Mutación
Límite:
Child, preschool
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2021
Tipo del documento:
Artículo
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