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

被引：27

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

共 6 条

[1] ERM proteins and merlin: Integrators at the cell cortex
Bretscher, A
Edwards, K
Fehon, RG
[J]. NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2002, 3 (08) : 586 - 599
[2] Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening
Brown, Lucinda
Xu-Bayford, Jinhua
Allwood, Zoe
Slatter, Mary
Cant, Andrew
Davies, E. Graham
Veys, Paul
Gennery, Andrew R.
Gaspar, H. Bobby
[J]. BLOOD, 2011, 117 (11) : 3243 - 3246
[3] Kwan A, 2014, JAMA-J AM MED ASSOC, V312, P29
[4] X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene
Lagresle-Peyrou, Chantal
Luce, Sonia
Ouchani, Farid
Soheili, Tayebeh Shabi
Sadek, Hanem
Chouteau, Myriam
Durand, Amandine
Pic, Isabelle
Majewski, Jacek
Brouzes, Chantal
Lambert, Nathalie
Bohineust, Armelle
Verhoeyen, Els
Cosset, Francois-Loic
Magerus-Chatinet, Aude
Rieux-Laucat, Frederic
Gandemer, Virginie
Monnier, Delphine
Heijmans, Catherine
van Gijn, Marielle
Dalm, Virgil A.
Mahlaoui, Nizar
Stephan, Jean-Louis
Picard, Capucine
Durandy, Anne
Kracker, Sven
Hivroz, Claire
Jabado, Nada
de Saint Basile, Genevieve
Fischer, Alain
Cavazzana, Marina
Andre-Schmutz, Isabelle
[J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2016, 138 (06) : 1681 - +
[5] Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles
Puck, Jennifer M.
[J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2012, 129 (03) : 607 - 618
[6] Moesin, the major ERM protein of lymphocytes and platelets, differs from ezrin in its insensitivity to calpain
Shcherbina, A
Bretscher, A
Kenney, DM
Remold-O'Donnell, E
[J]. FEBS LETTERS, 1999, 443 (01): : 31 - 36

← 1 →