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Erschienen in: Journal of Clinical Immunology 4/2017

04.04.2017 | Letter to Editor

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

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

Erschienen in: Journal of Clinical Immunology | Ausgabe 4/2017

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Excerpt

To the Editor
Anhänge
Nur mit Berechtigung zugänglich
Literatur
1.
Zurück zum Zitat 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. CrossRef 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. CrossRef
2.
Zurück zum Zitat 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. CrossRefPubMed 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. CrossRefPubMed
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Zurück zum Zitat 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. CrossRefPubMedPubMedCentral 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. CrossRefPubMedPubMedCentral
4.
Zurück zum Zitat 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. CrossRefPubMed 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. CrossRefPubMed
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Zurück zum Zitat Bretscher A, Edwards K, Fehon RG. ERM proteins and merlin: integrators at the cell cortex. Nat Rev Mol Cell Biol. 2002;3:586–99. CrossRefPubMed Bretscher A, Edwards K, Fehon RG. ERM proteins and merlin: integrators at the cell cortex. Nat Rev Mol Cell Biol. 2002;3:586–99. CrossRefPubMed
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Zurück zum Zitat Shcherbina A, Bretscher A, Kenney DM, Remold-O’ Donnell E. Moesin, the major ERM protein of lymphocytes and platelets, differes from ezrin in its insensitivity to calpain. FEBS Lett. 1999;443:31–6. CrossRefPubMed Shcherbina A, Bretscher A, Kenney DM, Remold-O’ Donnell E. Moesin, the major ERM protein of lymphocytes and platelets, differes from ezrin in its insensitivity to calpain. FEBS Lett. 1999;443:31–6. CrossRefPubMed
Metadaten
Titel
First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID
verfasst von
Ottavia M. Delmonte
Catherine M. Biggs
Anthony Hayward
Anne M. Comeau
Hye Sun Kuehn
Sergio D. Rosenzweig
Luigi D. Notarangelo
Publikationsdatum
04.04.2017
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 4/2017
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-017-0391-9

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