Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

ABSTRACT:

Background

Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.

Objective

This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors.

Methods

Clinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was develo

SUBMITTER: Barzaghi F 

PROVIDER: S-EPMC6050203 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature