IPEX syndrome from diagnosis to cure, learning along the way.
J Allergy Clin Immunol
; 153(3): 595-605, 2024 Mar.
Article
em En
| MEDLINE
| ID: mdl-38040040
ABSTRACT
In the past 2 decades, a significant number of studies have been published describing the molecular and clinical aspects of immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome. These studies have refined our knowledge of this rare yet prototypic genetic autoimmune disease, advancing the diagnosis, broadening the clinical spectrum, and improving our understanding of the underlying immunologic mechanisms. Despite these advances, Forkhead box P3 mutations have devastating consequences, and treating patients with IPEX syndrome remains a challenge, even with safer strategies for hematopoietic stem cell transplantation and gene therapy becoming a promising reality. The aim of this review was to highlight novel features of the disease to further advance awareness and improve the diagnosis and treatment of patients with IPEX syndrome.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Poliendocrinopatias Autoimunes
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Doenças Genéticas Ligadas ao Cromossomo X
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Diabetes Mellitus Tipo 1
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Doenças do Sistema Imunitário
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Enteropatias
Limite:
Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article