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- W2000498157 abstract "Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in the<mml:math xmlns:mml=http://www.w3.org/1998/Math/MathML id=E1><mml:mrow><mml:mi>F</mml:mi><mml:mi>O</mml:mi><mml:mi>X</mml:mi><mml:mi>P</mml:mi><mml:mn>3</mml:mn></mml:mrow></mml:math>gene that result in the defective development of<mml:math xmlns:mml=http://www.w3.org/1998/Math/MathML id=E2><mml:mtext>CD</mml:mtext><mml:msup><mml:mn>4</mml:mn><mml:mo>+</mml:mo></mml:msup><mml:mtext>CD</mml:mtext><mml:msup><mml:mn>25</mml:mn><mml:mo>+</mml:mo></mml:msup></mml:math>regulatory T cells which constitute an important T cell subset involved in immune homeostasis and protection against autoimmunity. Their deficiency is the hallmark of IPEX and leads to severe autoimmune phenomena including autoimmune enteropathy, dermatitis, thyroiditis, and type 1 diabetes, frequently resulting in death within the first 2 years of life. Apart from its clinical implications, IPEX illustrates the importance of immunoregulatory cells such as<mml:math xmlns:mml=http://www.w3.org/1998/Math/MathML id=E3><mml:mtext>CD</mml:mtext><mml:msup><mml:mn>4</mml:mn><mml:mo>+</mml:mo></mml:msup><mml:mtext>CD</mml:mtext><mml:msup><mml:mn>25</mml:mn><mml:mo>+</mml:mo></mml:msup></mml:math>regulatory T cells." @default.
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- W2000498157 title "IPEX as a Result of Mutations in FOXP3" @default.
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