X-linked immune dysregulation, polyendocrinopathy and enteropathy (IPEX syndrome): the description of a clinical case and a short literature review
https://doi.org/10.14341/probl201460529-33
Abstract
IPEX syndrome (X-linked immune dysregulation, polyendocrinopathy, enteropathy) is one of the rare hereditary X-linked forms of neonatal diabetes mellitus associated with mutations in the FOXP3 gene. The disease is characterized by the combination of polyendocrinopathy (more frequently neonatal diabetes mellitus) with enteropathy and immune dysregulation. In the majority of the cases it has an unfavourable prognosis. The present article presents for the first time in the Russian-speaking literature the description of the genetically verified case of IPEX syndrome.
About the Authors
Yu V Tikhonovich
Endocrinology Research Centre, Moscow
Russian Federation
Russian Federation
E E Petryaikina
Morozovskaya City Children’s Clinical Hospital, Moscow
Russian Federation
Russian Federation
I G Rybkina
Morozovskaya City Children’s Clinical Hospital, Moscow
Russian Federation
Russian Federation
I V Garyaeva
Morozovskaya City Children’s Clinical Hospital, Moscow
Russian Federation
Russian Federation
A N Tyul’pakov
Endocrinology Research Centre, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Tikhonovich Yu.V., Petryaikina E.E., Rybkina I.G., Garyaeva I.V., Tyul’pakov A.N. X-linked immune dysregulation, polyendocrinopathy and enteropathy (IPEX syndrome): the description of a clinical case and a short literature review. Problems of Endocrinology. 2014;60(5):29-33. (In Russ.) https://doi.org/10.14341/probl201460529-33
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