IPEX syndrome (Immune dysregulation, Polyendocrinopathy, X-linked) should be tested for in males under 6 months old presenting with diabetes, even without other IPEX features. Early diagnosis and bone marrow transplantation can improve outcomes.
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Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.
BMC Pediatr
December 2024
Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, 355 Luding Road, Shanghai, 200062, China.
Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare single-gene X-linked immunodeficiency disease caused by mutations in the forkhead box protein 3 (FOXP3) gene. The typical clinical manifestations of IPEX mainly include severe atopic dermatitis, insulin-dependent type 1 diabetes mellitus, and intractable diarrhea.
Case Presentation: Here, we report a boy with intractable diarrhea diagnosed with early-onset IPEX syndrome due to the c.
Expanding the spectrum of IPEX: from new clinical findings to novel treatments.
Curr Opin Allergy Clin Immunol
December 2024
Division of Pediatric Oncology/Hematology, Meyer Children's Hospital IRCCS.
Purpose Of Review: This review aims to provide an overview of recent research findings regarding immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, focusing on clinical and immunological novelties, as well as emerging treatment strategies, based on the published literature of the last few years.
Recent Findings: While it is well known that IPEX can present with a wide range of atypical clinical manifestations, new and unique phenotypes continue to emerge, making it essential to maintain a high level of clinical suspicion both at the time of diagnosis and during follow-up. This unpredictability in clinical presentation is further compounded by the lack of a clear genotype-phenotype correlation.
Pathophysiology of Congenital High Production of IgE and Its Consequences: A Narrative Review Uncovering a Neglected Setting of Disorders.
Life (Basel)
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Pediatric Unit, Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', University of Messina, 98124 Messina, Italy.
Elevated serum IgE levels serve as a critical marker for uncovering hidden immunological disorders, particularly inborn errors of immunity (IEIs), which are often misdiagnosed as common allergic conditions. IgE, while typically associated with allergic diseases, plays a significant role in immune defense, especially against parasitic infections. However, extremely high levels of IgE can indicate more severe conditions, such as Hyper-IgE syndromes (HIES) and disorders with similar features, including Omenn syndrome, Wiskott-Aldrich syndrome, and IPEX syndrome.
View Article and Find Full Text PDFRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
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Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
A case report of IPEX syndrome in Palestine: detailed family identification and breadth of disorders with the same defect.
Front Pediatr
September 2024
Department of Pediatric Endocrinology, Faculty of Medicine, Najah National University, Nablus, Palestine.
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder characterized by multi-systemic autoimmunity secondary to loss-of-function mutations in the gene coding the forkhead box P3 (FOXP3) transcription factor which is important for the development, maturation, and maintenance of CD4 + regulatory T (T-reg) cells. Fewer than 300 affected individuals have been identified worldwide. The occurrence of IPEX is below 1:1,000,000.
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