Literature DB >> 28378256

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

Ottavia M Delmonte1, Catherine M Biggs1,2, Anthony Hayward3, Anne M Comeau4, Hye Sun Kuehn5, Sergio D Rosenzweig5, Luigi D Notarangelo6.   

Abstract

Entities:  

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

Mesh：

Substances：

Year:  2017        PMID： 28378256      PMCID： PMC6082367          DOI： 10.1007/s10875-017-0391-9

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


× No keyword cloud information.
  6 in total

1.  Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening.

Authors:  Lucinda Brown; Jinhua Xu-Bayford; Zoe Allwood; Mary Slatter; Andrew Cant; E Graham Davies; Paul Veys; Andrew R Gennery; H Bobby Gaspar
Journal:  Blood       Date:  2011-01-27       Impact factor: 22.113

Review 2.  ERM proteins and merlin: integrators at the cell cortex.

Authors:  Anthony Bretscher; Kevin Edwards; Richard G Fehon
Journal:  Nat Rev Mol Cell Biol       Date:  2002-08       Impact factor: 94.444

3.  Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.

Authors:  Jennifer M Puck
Journal:  J Allergy Clin Immunol       Date:  2012-01-29       Impact factor: 10.793

4.  X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

Authors:  Chantal Lagresle-Peyrou; Sonia Luce; Farid Ouchani; Tayebeh Shabi Soheili; Hanem Sadek; Myriam Chouteau; Amandine Durand; Isabelle Pic; Jacek Majewski; Chantal Brouzes; Nathalie Lambert; Armelle Bohineust; Els Verhoeyen; François-Loïc Cosset; Aude Magerus-Chatinet; Frédéric Rieux-Laucat; Virginie Gandemer; Delphine Monnier; Catherine Heijmans; Marielle van Gijn; Virgil A Dalm; Nizar Mahlaoui; Jean-Louis Stephan; Capucine Picard; Anne Durandy; Sven Kracker; Claire Hivroz; Nada Jabado; Geneviève de Saint Basile; Alain Fischer; Marina Cavazzana; Isabelle André-Schmutz
Journal:  J Allergy Clin Immunol       Date:  2016-06-04       Impact factor: 10.793

5.  Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Authors:  Antonia Kwan; Roshini S Abraham; Robert Currier; Amy Brower; Karen Andruszewski; Jordan K Abbott; Mei Baker; Mark Ballow; Louis E Bartoshesky; Francisco A Bonilla; Charles Brokopp; Edward Brooks; Michele Caggana; Jocelyn Celestin; Joseph A Church; Anne Marie Comeau; James A Connelly; Morton J Cowan; Charlotte Cunningham-Rundles; Trivikram Dasu; Nina Dave; Maria T De La Morena; Ulrich Duffner; Chin-To Fong; Lisa Forbes; Debra Freedenberg; Erwin W Gelfand; Jaime E Hale; I Celine Hanson; Beverly N Hay; Diana Hu; Anthony Infante; Daisy Johnson; Neena Kapoor; Denise M Kay; Donald B Kohn; Rachel Lee; Heather Lehman; Zhili Lin; Fred Lorey; Aly Abdel-Mageed; Adrienne Manning; Sean McGhee; Theodore B Moore; Stanley J Naides; Luigi D Notarangelo; Jordan S Orange; Sung-Yun Pai; Matthew Porteus; Ray Rodriguez; Neil Romberg; John Routes; Mary Ruehle; Arye Rubenstein; Carlos A Saavedra-Matiz; Ginger Scott; Patricia M Scott; Elizabeth Secord; Christine Seroogy; William T Shearer; Subhadra Siegel; Stacy K Silvers; E Richard Stiehm; Robert W Sugerman; John L Sullivan; Susan Tanksley; Millard L Tierce; James Verbsky; Beth Vogel; Rosalyn Walker; Kelly Walkovich; Jolan E Walter; Richard L Wasserman; Michael S Watson; Geoffrey A Weinberg; Leonard B Weiner; Heather Wood; Anne B Yates; Jennifer M Puck; Vincent R Bonagura
Journal:  JAMA       Date:  2014-08-20       Impact factor: 56.272

6.  Moesin, the major ERM protein of lymphocytes and platelets, differs from ezrin in its insensitivity to calpain.

Authors:  A Shcherbina; A Bretscher; D M Kenney; E Remold-O'Donnell
Journal:  FEBS Lett       Date:  1999-01-22       Impact factor: 4.124
  6 in total
  9 in total

Review 1.  When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.

Authors:  Evelien G G Sprenkeler; Steven D S Webbers; Taco W Kuijpers
Journal:  J Innate Immun       Date:  2020-08-26       Impact factor: 7.349

2.  Argentinian X-MAID Siblings with One of Them Manifesting a Rare Ophthalmological Complication.

Authors:  Luciano Urdinez; Veronica Goris; Jorgelina Falbo; Matias Oleastro; Silvia Danielian
Journal:  J Clin Immunol       Date:  2021-08-28       Impact factor: 8.317

3.  A Novel Variant of X-Linked Moesin Gene in a Boy With Inflammatory Bowel Disease Like Disease-A Case Report.

Authors:  Youhong Fang; Youyou Luo; Yang Liu; Jie Chen
Journal:  Front Genet       Date:  2022-06-09       Impact factor: 4.772

4.  Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50.

Authors:  András L Kovács; Judit Kárteszi; Zoltán Prohászka; Tibor Kalmár; Gábor Késmárky; Katalin Koltai; Zsuzsanna Nagy; Judit Sebők; Tibor Vas; Krisztián Molnár; Tímea Berki; Katalin Böröcz; Csaba Gyömörei; József Szalma; Miklós Egyed; Szabina Horváth; Péter Oláh; Dorottya Csuka; Viktória Németh; Rolland Gyulai
Journal:  Front Immunol       Date:  2022-09-01       Impact factor: 8.786

Review 5.  Actin Dynamics at the T Cell Synapse as Revealed by Immune-Related Actinopathies.

Authors:  Loïc Dupré; Kaan Boztug; Laurène Pfajfer
Journal:  Front Cell Dev Biol       Date:  2021-06-24

6.  Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.

Authors:  Gabrielle Bradshaw; Robbie R Lualhati; Cassie L Albury; Neven Maksemous; Deidre Roos-Araujo; Robert A Smith; Miles C Benton; David A Eccles; Rod A Lea; Heidi G Sutherland; Larisa M Haupt; Lyn R Griffiths
Journal:  Front Immunol       Date:  2018-03-05       Impact factor: 7.561

Review 7.  ERM Proteins at the Crossroad of Leukocyte Polarization, Migration and Intercellular Adhesion.

Authors:  Almudena García-Ortiz; Juan Manuel Serrador
Journal:  Int J Mol Sci       Date:  2020-02-22       Impact factor: 5.923

Review 8.  Molecular Mechanisms of Leukocyte Migration and Its Potential Targeting-Lessons Learned From MKL1/SRF-Related Primary Immunodeficiency Diseases.

Authors:  Evelien G G Sprenkeler; Carla Guenther; Imrul Faisal; Taco W Kuijpers; Susanna C Fagerholm
Journal:  Front Immunol       Date:  2021-02-22       Impact factor: 7.561

9.  A Murine Model of X-Linked Moesin-Associated Immunodeficiency (X-MAID) Reveals Defects in T Cell Homeostasis and Migration.

Authors:  Lyndsay Avery; Tanner F Robertson; Christine F Wu; Nathan H Roy; Samuel D Chauvin; Eric Perkey; Ashley Vanderbeck; Ivan Maillard; Janis K Burkhardt
Journal:  Front Immunol       Date:  2022-01-06       Impact factor: 8.786
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.