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

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

BackgroundWe investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood.AimTo identify causative functional geneti...

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Bibliographic Details
Main 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-03-01
Series:Frontiers in Immunology
Subjects:
lymphopenia
whole exome sequencing
moesin
MSN
X-linked moesin-associated immunodeficiency
Online Access:http://journal.frontiersin.org/article/10.3389/fimmu.2018.00420/full

Internet

http://journal.frontiersin.org/article/10.3389/fimmu.2018.00420/full

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