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Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency

Autoinflammatory diseases (AID) are a heterogeneous group of inherited conditions caused by abnormal activation of systems mediating innate immunity. Recent literature focuses on A20 Haploinsufficiency, an autoinflammatory disease with a phenotype resembling Behçet disease (BD). It is caused by loss...

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Autores principales: Zanatta, Laura, Biscaro, Francesca, Bresolin, Silvia, Marzaro, Maurizio, Sarcognato, Samantha, Cataldo, Ivana, Marzollo, Antonio, Martelossi, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9715734/
https://www.ncbi.nlm.nih.gov/pubmed/36467491
http://dx.doi.org/10.3389/fped.2022.1044007
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author Zanatta, Laura
Biscaro, Francesca
Bresolin, Silvia
Marzaro, Maurizio
Sarcognato, Samantha
Cataldo, Ivana
Marzollo, Antonio
Martelossi, Stefano
author_facet Zanatta, Laura
Biscaro, Francesca
Bresolin, Silvia
Marzaro, Maurizio
Sarcognato, Samantha
Cataldo, Ivana
Marzollo, Antonio
Martelossi, Stefano
author_sort Zanatta, Laura
collection PubMed
description Autoinflammatory diseases (AID) are a heterogeneous group of inherited conditions caused by abnormal activation of systems mediating innate immunity. Recent literature focuses on A20 Haploinsufficiency, an autoinflammatory disease with a phenotype resembling Behçet disease (BD). It is caused by loss-of-function mutations in TNFAIP3 gene that result in the activation of a pro-inflammatory pathway. In this case report we describe a one-year-old baby who came to our attention for hematochezia appeared at three months of age which was considered an expression of early-onset colitis. The following appearance of cutaneous inflammation Behçet-like and the positive family history concurred with the diagnosis of an autoinflammatory disease. Extended genetic tests in the patient allowed to identify a heterozygous variant in TNFAIP3 [NM_006290.4:c.460G > T, p.(Glu154Ter)], not previously described and not present in the GnomAD database. As a consequence the diagnosis A20 Haploinsufficiency was established and the appropriate management was started. The same TNFAIP3 variant was also found in her father who had suffered from recurrent oral aphthosis, vitiligo and thyroiditis since childhood. In conclusion, we described a young patient with a novel heterozygous mutation in TNFAIP3 who developed BD-like symptoms. We proposed that loss-of-function variants in TNFAIP3 may be associated with a very early-onset intestinal BD phenotype.
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spelling pubmed-97157342022-12-03 Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency Zanatta, Laura Biscaro, Francesca Bresolin, Silvia Marzaro, Maurizio Sarcognato, Samantha Cataldo, Ivana Marzollo, Antonio Martelossi, Stefano Front Pediatr Pediatrics Autoinflammatory diseases (AID) are a heterogeneous group of inherited conditions caused by abnormal activation of systems mediating innate immunity. Recent literature focuses on A20 Haploinsufficiency, an autoinflammatory disease with a phenotype resembling Behçet disease (BD). It is caused by loss-of-function mutations in TNFAIP3 gene that result in the activation of a pro-inflammatory pathway. In this case report we describe a one-year-old baby who came to our attention for hematochezia appeared at three months of age which was considered an expression of early-onset colitis. The following appearance of cutaneous inflammation Behçet-like and the positive family history concurred with the diagnosis of an autoinflammatory disease. Extended genetic tests in the patient allowed to identify a heterozygous variant in TNFAIP3 [NM_006290.4:c.460G > T, p.(Glu154Ter)], not previously described and not present in the GnomAD database. As a consequence the diagnosis A20 Haploinsufficiency was established and the appropriate management was started. The same TNFAIP3 variant was also found in her father who had suffered from recurrent oral aphthosis, vitiligo and thyroiditis since childhood. In conclusion, we described a young patient with a novel heterozygous mutation in TNFAIP3 who developed BD-like symptoms. We proposed that loss-of-function variants in TNFAIP3 may be associated with a very early-onset intestinal BD phenotype. Frontiers Media S.A. 2022-11-18 /pmc/articles/PMC9715734/ /pubmed/36467491 http://dx.doi.org/10.3389/fped.2022.1044007 Text en © 2022 Zanatta, Biscaro, Bresolin, Marzaro, Sarcognato, Cataldo, Marzollo and Martelossi. 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
Zanatta, Laura
Biscaro, Francesca
Bresolin, Silvia
Marzaro, Maurizio
Sarcognato, Samantha
Cataldo, Ivana
Marzollo, Antonio
Martelossi, Stefano
Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency
title Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency
title_full Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency
title_fullStr Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency
title_full_unstemmed Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency
title_short Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency
title_sort case report: an early-onset inflammatory colitis due to a variant in tnfaip3 causing a20 haploinsufficiency
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9715734/
https://www.ncbi.nlm.nih.gov/pubmed/36467491
http://dx.doi.org/10.3389/fped.2022.1044007
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