An update on signal transduction and activator of transcription 3-hyper-IgE syndrome / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
; (24): 318-320, 2023.
Article
en Zh
| WPRIM
| ID: wpr-990034
Biblioteca responsable:
WPRO
ABSTRACT
Hyper-IgE syndrome (HIES) comprises a group of rare primary immunodeficiencies, which are characterized by extremely high serum IgE levels, eczema, recurrent skin and pulmonary infections.Signal transduction and activator of transcription 3( STAT3)-HIES is the most common type, which is caused by dominant-negative mutations in STAT3.STAT3-HIES confers broad innate and acquired immune defects, defects in skeletal, connective tissue, and vascular functions, causing a clinical phenotype including eczema, staphylococcal and fungal skin and pulmonary infections, scoliosis and minimal trauma fractures, vascular tortuosity and aneurysm.In this article, the advance in diverse clinical manifestations and management strategies of STAT3-HIES was summarized.
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Base de datos:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Applied Clinical Pediatrics
Año:
2023
Tipo del documento:
Article