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

被引：30

作者：

Delmonte, Ottavia M. ^{[1
]}

Biggs, Catherine M. ^{[1
,2
]}

Hayward, Anthony ^{[3
]}

Comeau, Anne M. ^{[4
]}

Kuehn, Hye Sun ^{[5
]}

Rosenzweig, Sergio D. ^{[5
]}

Notarangelo, Luigi D. ^{[6
]}

机构：

[1] Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA

[2] Univ British Columbia, British Columbia Childrens Hosp, Dept Pediat, Vancouver, BC V6H 3N1, Canada

[3] Brown Univ, Alpert Med Sch, Providence, RI 02912 USA

[4] Univ Massachusetts, Sch Med, Dept Pediat, Jamaica Plain, MA 02130 USA

[5] NIH, Dept Lab Med, NIH Clin Ctr, Bldg 10, Bethesda, MD 20892 USA

[6] NIAID, Immune Deficiency Genet Sect, Lab Host Def, Div Intramural Res,NIH, Bldg 10 CRC,Room 5-3950,10 Ctr Dr,MSC 1456, Bethesda, MD 20892 USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2017年 / 37卷 / 04期

关键词：

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

D O I：

10.1007/s10875-017-0391-9

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

引用

页码：336 / 338

页数：3

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