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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 |
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author | Kuijpers, Taco W. Tromp, Samantha A. M. van Leeuwen, Ester M. M. de Bree, Godelieve J. |
author_facet | Kuijpers, Taco W. Tromp, Samantha A. M. van Leeuwen, Ester M. M. de Bree, Godelieve J. |
author_sort | Kuijpers, Taco W. |
collection | PubMed |
description | 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, respectively, demonstrates the large variability of this genetic defect in one single family, while living in the same environment with a relatively similar genetic background. As discussed, clinical penetrance of the molecular defects identified by mutations in IKZF and other common gene defects in CVID in familial immune-related abnormalities makes genetic testing a necessary step for diagnosis, management, and counseling, as part of the routine immunological workup. |
format | Online Article Text |
id | pubmed-9036438 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-90364382022-04-26 Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family Kuijpers, Taco W. Tromp, Samantha A. M. van Leeuwen, Ester M. M. de Bree, Godelieve J. Front Immunol Immunology 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, respectively, demonstrates the large variability of this genetic defect in one single family, while living in the same environment with a relatively similar genetic background. As discussed, clinical penetrance of the molecular defects identified by mutations in IKZF and other common gene defects in CVID in familial immune-related abnormalities makes genetic testing a necessary step for diagnosis, management, and counseling, as part of the routine immunological workup. Frontiers Media S.A. 2022-04-11 /pmc/articles/PMC9036438/ /pubmed/35479066 http://dx.doi.org/10.3389/fimmu.2022.865838 Text en Copyright © 2022 Kuijpers, Tromp, van Leeuwen and de Bree https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Immunology Kuijpers, Taco W. Tromp, Samantha A. M. van Leeuwen, Ester M. M. de Bree, Godelieve J. Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family |
title | Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family |
title_full | Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family |
title_fullStr | Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family |
title_full_unstemmed | Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family |
title_short | Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family |
title_sort | case report: a highly variable clinical and immunological presentation of ikaros deficiency in a single family |
topic | Immunology |
url | 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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