Ipex Syndrome

IPEX (immunopathy, polyendocrinopathy, enteropathy, X-linked) is a recessive syndrome in which there is an aggressive autoimmune reaction.

This rare disease caused by a mutation of the transcriptional FoxP3, creating a regulatory T-cell dysfunction and subsequent autoimmune disease caused.

IPEX (immunopathy, polyendocrinopathy, enteropathy, X-linked) is a recessive syndrome in which there is an aggressive autoimmune reaction. This rare disease caused by a mutation of the transcriptional FoxP3, creating a regulatory T-cell dysfunction and subsequent autoimmune disease caused. The IPEX syndrome manifests as severe enlargement of the secondary lymphoid organs, type 1 diabetes mellitus, eczema and in the form of food allergies and infections. The secondary enteropathy causes diarrhea. Diagnosis is based on clinical findings and confirmed by genetic analysis. Therapy hematopoietic stem cell transplantation untreated, IPEX syndrome usually results within the first year of life to death. The hematopoietic stem cell transplantation has been shown to be effective. A long-term follow-up of patients with IPEX, which are treated with a hematopoietic stem cell is continued (1). Treatment Note Nademi Z, Slatter M, Gambineri E, et al. The experience of a single center of hamotopoetischer SCT in patients with Immunodysregulation, polyendocrinopathy, enteropathy, X-linked inherited syndrome. Bone Marrow Transplant 49 (2): 310-312,, 2014.

Health Life Media Team

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