表现为联合免疫缺陷的新型信号转导与转录激活因子1功能获得性突变 - Suppr

Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.

作者信息

Hartono Stella P, Vargas-Hernández Alexander, Ponsford Mark J, Chinn Ivan K, Jolles Stephen, Wilson Keith, Forbes Lisa R

机构信息

Department of Pediatrics, Baylor College of Medicine, 1102 Bates, Suite 330, Houston, TX, 77030, USA.

Center for Human Immunobiology, Immunology, Allergy, Rheumatology, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.

出版信息

J Clin Immunol. 2018 Oct;38(7):753-756. doi: 10.1007/s10875-018-0554-3. Epub 2018 Oct 13.

DOI:10.1007/s10875-018-0554-3

PMID:30317461

Abstract

摘要

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J Allergy Clin Immunol. 2018 Nov;142(5):1665-1669. doi: 10.1016/j.jaci.2018.07.020. Epub 2018 Aug 6.

Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

J Allergy Clin Immunol. 2018 Jun;141(6):2142-2155.e5. doi: 10.1016/j.jaci.2017.08.040. Epub 2017 Oct 27.

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.

J Allergy Clin Immunol. 2018 Feb;141(2):704-717.e5. doi: 10.1016/j.jaci.2017.03.049. Epub 2017 Jun 7.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16.

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Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25.

Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival.

J Allergy Clin Immunol. 2013 Jun;131(6):1691-3. doi: 10.1016/j.jaci.2013.01.004. Epub 2013 Feb 10.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4.

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Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.

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