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

被引：0

作者：

Ottavia M. Delmonte

Catherine M. Biggs

Anthony Hayward

Anne M. Comeau

Hye Sun Kuehn

Sergio D. Rosenzweig

Luigi D. Notarangelo

机构：

[1] Boston Children’s Hospital,Division of Immunology

[2] University of British Columbia,Department of Pediatrics, British Columbia Children’s Hospital

[3] Brown University,Alpert Medical School

[4] University of Massachusetts Medical School,Department of Pediatrics

[5] National Institutes of Health,Department of Laboratory Medicine, NIH Clinical Center

[6] National Institutes of Health,Immune Deficiency Genetics Section, Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases

来源：

Journal of Clinical Immunology | 2017年 / 37卷

关键词：

Combined immunodeficiency; moesin; newborn screening; lymphopenia; neutropenia;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：336 / 338

页数：2

共 26 条

[1] Kwan A(2014)Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States JAMA 312 29-38
[2] Abraham RS(2011)Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening Blood 117 3243-3246
[3] Currier R(2012)Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles J Allergy Clin Immunol 129 607-616
[4] Brauer A(2016)X-linked primary immunodeficiency associated with hemizygous mutations in the moesin ( J Allergy Clin Immunol 138 1681-1689
[5] Andruszewski K(2002)) gene Nat Rev Mol Cell Biol 3 586-599
[6] Abbott JK(1999)ERM proteins and merlin: integrators at the cell cortex FEBS Lett 443 31-36
[7] Brown L(undefined)Moesin, the major ERM protein of lymphocytes and platelets, differes from ezrin in its insensitivity to calpain undefined undefined undefined-undefined
[8] Xu-Bayford J(undefined)undefined undefined undefined undefined-undefined
[9] Allwood Z(undefined)undefined undefined undefined undefined-undefined
[10] Slatter M(undefined)undefined undefined undefined undefined-undefined

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