IPEX syndrome from diagnosis to cure, learning along the way

Rosa Bacchetta; Maria Grazia Roncarolo

doi:10.1016/j.jaci.2023.11.021

IPEX syndrome from diagnosis to cure, learning along the way

J Allergy Clin Immunol. 2024 Mar;153(3):595-605. doi: 10.1016/j.jaci.2023.11.021. Epub 2023 Nov 30.

Authors

Rosa Bacchetta¹, Maria Grazia Roncarolo²

Affiliations

¹ Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif; Center for Definitive and Curative Medicine (CDCM), Stanford University School of Medicine, Stanford, Calif. Electronic address: rosab@stanford.edu.
² Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, Calif; Center for Definitive and Curative Medicine (CDCM), Stanford University School of Medicine, Stanford, Calif; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, Calif.

PMID: 38040040
DOI: 10.1016/j.jaci.2023.11.021

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.

Keywords: FOXP3; Regulatory T cells; TSDR; gene therapy; genetic autoimmunity; immune dysregulation.

Publication types

Review

MeSH terms

Diabetes Mellitus, Type 1 / congenital*
Diarrhea
Forkhead Transcription Factors / genetics
Genetic Diseases, X-Linked* / diagnosis
Genetic Diseases, X-Linked* / genetics
Genetic Diseases, X-Linked* / therapy
Humans
Immune System Diseases* / congenital*
Immune System Diseases* / diagnosis
Immune System Diseases* / genetics
Immune System Diseases* / therapy
Intestinal Diseases* / diagnosis
Intestinal Diseases* / genetics
Mutation
Polyendocrinopathies, Autoimmune* / diagnosis
Polyendocrinopathies, Autoimmune* / genetics
Polyendocrinopathies, Autoimmune* / therapy
T-Lymphocytes, Regulatory

Substances

Forkhead Transcription Factors

Supplementary concepts

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome