Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Debeljak, M., Blazina, S., Brecelj, J., Avčin, T., Toplak, N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
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
_version_ 1785065381587582976
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
work_keys_str_mv AT debeljakm thespectrumofclinicalpresentationinhaploinsufficiencyofa20acasereportofanovelmutationintnfaip3gene
AT blazinas thespectrumofclinicalpresentationinhaploinsufficiencyofa20acasereportofanovelmutationintnfaip3gene
AT breceljj thespectrumofclinicalpresentationinhaploinsufficiencyofa20acasereportofanovelmutationintnfaip3gene
AT avcint thespectrumofclinicalpresentationinhaploinsufficiencyofa20acasereportofanovelmutationintnfaip3gene
AT toplakn thespectrumofclinicalpresentationinhaploinsufficiencyofa20acasereportofanovelmutationintnfaip3gene
AT debeljakm spectrumofclinicalpresentationinhaploinsufficiencyofa20acasereportofanovelmutationintnfaip3gene
AT blazinas spectrumofclinicalpresentationinhaploinsufficiencyofa20acasereportofanovelmutationintnfaip3gene
AT breceljj spectrumofclinicalpresentationinhaploinsufficiencyofa20acasereportofanovelmutationintnfaip3gene
AT avcint spectrumofclinicalpresentationinhaploinsufficiencyofa20acasereportofanovelmutationintnfaip3gene
AT toplakn spectrumofclinicalpresentationinhaploinsufficiencyofa20acasereportofanovelmutationintnfaip3gene