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The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene
Haploinsufficiency of A20 was first described in 2016 as a new autoinflammatory disease that clinically presents as early-onset Behcet's disease. After the publication of the first 16 cases, more patients were diagnosed and described in the literature. The spectrum of clinical presentation has...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10303888/ https://www.ncbi.nlm.nih.gov/pubmed/37388287 http://dx.doi.org/10.3389/fped.2023.1132596 |
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author | Debeljak, M. Blazina, S. Brecelj, J. Avčin, T. Toplak, N. |
author_facet | Debeljak, M. Blazina, S. Brecelj, J. Avčin, T. Toplak, N. |
author_sort | Debeljak, M. |
collection | PubMed |
description | Haploinsufficiency of A20 was first described in 2016 as a new autoinflammatory disease that clinically presents as early-onset Behcet's disease. After the publication of the first 16 cases, more patients were diagnosed and described in the literature. The spectrum of clinical presentation has expanded. In this short report, we present a patient with a novel mutation in the TNFAIP3 gene. The clinical presentation included signs of an autoinflammatory disease with recurrent fever, abdominal pain, diarrhea, respiratory tract infections, and elevated inflammatory parameters. We will emphasize the importance of genetic testing, especially in patients with various clinical signs that do not fit a single autoinflammatory disease. |
format | Online Article Text |
id | pubmed-10303888 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-103038882023-06-29 The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene Debeljak, M. Blazina, S. Brecelj, J. Avčin, T. Toplak, N. Front Pediatr Pediatrics Haploinsufficiency of A20 was first described in 2016 as a new autoinflammatory disease that clinically presents as early-onset Behcet's disease. After the publication of the first 16 cases, more patients were diagnosed and described in the literature. The spectrum of clinical presentation has expanded. In this short report, we present a patient with a novel mutation in the TNFAIP3 gene. The clinical presentation included signs of an autoinflammatory disease with recurrent fever, abdominal pain, diarrhea, respiratory tract infections, and elevated inflammatory parameters. We will emphasize the importance of genetic testing, especially in patients with various clinical signs that do not fit a single autoinflammatory disease. Frontiers Media S.A. 2023-06-14 /pmc/articles/PMC10303888/ /pubmed/37388287 http://dx.doi.org/10.3389/fped.2023.1132596 Text en © 2023 Debeljak, Blazina, Brecelj, Avčin and Toplak. 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) (https://creativecommons.org/licenses/by/4.0/) . 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 | Pediatrics Debeljak, M. Blazina, S. Brecelj, J. Avčin, T. Toplak, N. The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene |
title | The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene |
title_full | The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene |
title_fullStr | The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene |
title_full_unstemmed | The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene |
title_short | The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene |
title_sort | spectrum of clinical presentation in haploinsufficiency of a20; a case report of a novel mutation in tnfaip3 gene |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10303888/ https://www.ncbi.nlm.nih.gov/pubmed/37388287 http://dx.doi.org/10.3389/fped.2023.1132596 |
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