Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family

Here we describe a novel mutation in the IKZF gene encoding IKAROS, as the cause of common variable immunodeficiency (CVID). The identification of the same defect in the IKZF gene with manifestations of asymptomatic selective IgA deficiency and chronic ITP in the father and her younger brother, resp...

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Detalles Bibliográficos
Autores principales: Kuijpers, Taco W., Tromp, Samantha A. M., van Leeuwen, Ester M. M., de Bree, Godelieve J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036438/
https://www.ncbi.nlm.nih.gov/pubmed/35479066
http://dx.doi.org/10.3389/fimmu.2022.865838

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036438/
https://www.ncbi.nlm.nih.gov/pubmed/35479066
http://dx.doi.org/10.3389/fimmu.2022.865838

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