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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| 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 |