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

BACKGROUND: We 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. AIM: To identify causative functional g...

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Detalles Bibliográficos
Autores principales:	Bradshaw, Gabrielle, Lualhati, Robbie R., Albury, Cassie L., Maksemous, Neven, Roos-Araujo, Deidre, Smith, Robert A., Benton, Miles C., Eccles, David A., Lea, Rod A., Sutherland, Heidi G., Haupt, Larisa M., Griffiths, Lyn R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5845094/ https://www.ncbi.nlm.nih.gov/pubmed/29556235 http://dx.doi.org/10.3389/fimmu.2018.00420

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