First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID-Reference-Cited by-同舟云学术

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

Published:2017-04-04 Issue:4 Volume:37 Page:336-338
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

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

Funder

National Institute of Allergy and Infectious Diseases

National Institutes of Health

CAAIF/AllerGen Research Fellowship

AllerGen Emerging Clinician-Scientist Research Fellowship

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-017-0391-9.pdf

Reference6 articles.

1. Kwan A, Abraham RS, Currier R, Brauer A, Andruszewski K, Abbott JK, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312:29–38.

2. Brown L, Xu-Bayford J, Allwood Z, Slatter M, Cant A, Davies EG, et al. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood. 2011;117:3243–6.

3. Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol. 2012;129:607–16.

4. Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, et al. X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. J Allergy Clin Immunol. 2016;138:1681–9.

5. Bretscher A, Edwards K, Fehon RG. ERM proteins and merlin: integrators at the cell cortex. Nat Rev Mol Cell Biol. 2002;3:586–99.

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