X-linked immune dysregulation, polyendocrinopathy and enteropathy (IPEX syndrome): the description of a clinical case and a short literature review

Tikhonovich Iu.V.; Petriaĭkina E.E.; Rybkina I.G.; Gariaeva I.V.; Tiul'pakov A.N.

doi:https://doi.org/10.14341/probl201460529-33

Tikhonovich Iu.V.

Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossii

Petriaĭkina E.E.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Rybkina I.G.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Gariaeva I.V.

Morozovskaia DGKB Departamenta zdravookhraneniia Moskvy

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

X-linked immune dysregulation, polyendocrinopathy and enteropathy (IPEX syndrome): the description of a clinical case and a short literature review

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Tikhonovich Iu.V., Petriaĭkina E.E., Rybkina I.G., Gariaeva I.V., Tiul'pakov A.N.

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Journal: Problems of Endocrinology. 2014;60(5): 29‑33

DOI: 10.14341/probl201460529-33

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Tikhonovich IuV, Petriaĭkina EE, Rybkina IG, Gariaeva IV, Tiul'pakov AN. 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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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.

Keywords:

neonatal diabetes mellitus

IPEX syndrome

mutations in the FOXP3 gene

Authors:

Tikhonovich Iu.V.

Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossii

Petriaĭkina E.E.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Rybkina I.G.

Morozovskaia detskaia gorodskaia klinicheskaia bol'nitsa

Gariaeva I.V.

Morozovskaia DGKB Departamenta zdravookhraneniia Moskvy

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

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References:

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