Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation
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- 作者：Robin Kobbea ; Manuela Kolsterb ; Sebastian Fuchsc ; Ulf Schulze-Sturma ; Jutta Jendernyd ; Lothar Kochhand ; Julia Staabe ; Eva Tolosab ; Bodo Grimbacherc ; f ; g ; Thomas Meyere ; 1 ; thomas.meyer@med.uni-goettingen.de" class="auth_mail" title="E-mail the corresponding author
- 关键词：CMC ; chronic mucocutaneous candidiasis ; CVID ; common variable immunodeficiency ; FOXP3 ; forkhead-box protein 3 ; GOF ; gain-of-function ; STAT ; signal transducer and activator of transcription
- 刊名：Gene
- 出版年：2016
- 出版时间：25 July 2016
- 年：2016
- 卷：586
- 期：2
- 页码：234-238
- 全文大小：744 K
文摘
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A STAT1 Phe172Leu gain-of-function mutation is associated with low T regulatory cells.
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Proliferation of T cells in response to anti-CD3 and IL-2 was unaltered.
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The index patient presents with signs of common variable immunodeficiency (CVID).
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The mutation carrier suffers from dystrophy and delayed neurocognitive development.