{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:16:13Z","timestamp":1790630173293,"version":"4.1.0"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T00:00:00Z","timestamp":1668729600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>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 Beh\u00e7et disease (BD). It is caused by <jats:italic>loss-of-function<\/jats:italic> mutations in <jats:italic>TNFAIP3<\/jats:italic> 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 Beh\u00e7et-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 <jats:italic>TNFAIP3<\/jats:italic> [NM_006290.4:c.460G\u2009&amp;gt;\u2009T, 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 <jats:italic>TNFAIP3<\/jats:italic> 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 <jats:italic>TNFAIP3<\/jats:italic> who developed BD-like symptoms. We proposed that loss-of-function variants in <jats:italic>TNFAIP3<\/jats:italic> may be associated with a very early-onset intestinal BD phenotype.<\/jats:p>","DOI":"10.3389\/fped.2022.1044007","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T05:47:55Z","timestamp":1668750475000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 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