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Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency

Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency. Patients with CVID are prone to recurrent bacterial infection due to the failure of adequate immunoglobulin production. Monogenetic defects have been identified in ~25% of CVID patients. Recently, muta...

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Detalles Bibliográficos
Autores principales: Eskandarian, Zoya, Fliegauf, Manfred, Bulashevska, Alla, Proietti, Michele, Hague, Rosie, Smulski, Cristian Roberto, Schubert, Desirée, Warnatz, Klaus, Grimbacher, Bodo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6477086/
https://www.ncbi.nlm.nih.gov/pubmed/31057532
http://dx.doi.org/10.3389/fimmu.2019.00568