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本文引用的文献

1
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.X 连锁原发性免疫缺陷症与 moesin（MSN）基因的半合子突变相关。
J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8. doi: 10.1016/j.jaci.2016.04.032. Epub 2016 Jun 4.
2
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.美国11个筛查项目中对重症联合免疫缺陷的新生儿筛查。
JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132.
3
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.基于人群的新生儿重症联合免疫缺陷症筛查的实验室技术：赢家是 T 细胞受体切除环。
J Allergy Clin Immunol. 2012 Mar;129(3):607-16. doi: 10.1016/j.jaci.2012.01.032. Epub 2012 Jan 29.
4
Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening.新生儿严重联合免疫缺陷症的诊断显著改善了生存结果：新生儿筛查的必要性。
Blood. 2011 Mar 17;117(11):3243-6. doi: 10.1182/blood-2010-08-300384. Epub 2011 Jan 27.
5
ERM proteins and merlin: integrators at the cell cortex.ERM蛋白与默林：细胞皮层的整合蛋白
Nat Rev Mol Cell Biol. 2002 Aug;3(8):586-99. doi: 10.1038/nrm882.
6
Moesin, the major ERM protein of lymphocytes and platelets, differs from ezrin in its insensitivity to calpain.膜突蛋白是淋巴细胞和血小板中的主要ERM蛋白，与埃兹蛋白不同，它对钙蛋白酶不敏感。
FEBS Lett. 1999 Jan 22;443(1):31-6. doi: 10.1016/s0014-5793(98)01674-3.

First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.

作者信息

Delmonte Ottavia M, Biggs Catherine M, Hayward Anthony, Comeau Anne M, Kuehn Hye Sun, Rosenzweig Sergio D, Notarangelo Luigi D

机构信息

Division of Immunology, Boston Children's Hospital, Boston, MA, 02115, USA.

Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.

出版信息

J Clin Immunol. 2017 May;37(4):336-338. doi: 10.1007/s10875-017-0391-9. Epub 2017 Apr 4.

DOI:10.1007/s10875-017-0391-9
PMID:28378256
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6082367/
Abstract
摘要