{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T19:45:54Z","timestamp":1774727154145,"version":"3.50.1"},"reference-count":35,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T00:00:00Z","timestamp":1614297600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>Primary immunodeficiency (PID) with immune dysregulation may present with early onset gastrointestinal autoimmune disorders. When gastrointestinal autoimmunity is associated with multiple extraintestinal immune system dysfunction the diagnosis of PID is straightforward. However, with the advent of next generation sequencing technologies, genetic defects in PID genes have been increasingly recognized even when a single or no extraintestinal signs of immune dysregulation are present. A genetic diagnosis is especially important considering the expanding armamentarium of therapies designed to inhibit specific molecular pathways. We describe a boy with early-onset severe, refractory autoimmune gastritis and biallelic mutations in the <jats:italic>LRBA<\/jats:italic> gene causing a premature STOP-codon who was successfully treated with CTLA4-Ig, abatacept, with long term clinical and endoscopic remission. The case underscores the importance to consider a monogenetic defect in early onset autoimmune disorders, since the availability of targeted treatments may significantly improve patient prognosis.<\/jats:p>","DOI":"10.3389\/fimmu.2021.619246","type":"journal-article","created":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T04:53:12Z","timestamp":1614315192000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency"],"prefix":"10.3389","volume":"12","author":[{"given":"Valentina","family":"Boz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica","family":"Valencic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Girardelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Pin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"G\u00e0mez-Diaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Tommasini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Lega","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Bramuzzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,2,26]]},"reference":[{"key":"B1","unstructured":"Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity9861001\n            Lopez-HerreraG\n            TampellaG\n            Pan-HammarstromQ\n            HerholzP\n            Trujillo-VargasCM\n            PhadwalK\n          10.1016\/j.ajhg.2012.04.01522608502Am J Hum Genet902012"},{"key":"B2","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1007\/s10875-017-0464-9","article-title":"International union of immunological societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity","volume":"38","author":"Picard","year":"2018","journal-title":"J Clin Immunol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1452","DOI":"10.1016\/j.jaci.2019.12.896","article-title":"Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score","volume":"145","author":"Tesch","year":"2020","journal-title":"J Allergy Clin Immunol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1111\/tra.12069","article-title":"The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease","volume":"14","author":"Cullinane","year":"2013","journal-title":"Traffic"},{"key":"B5","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1126\/science.aac7888","article-title":"IMMUNOLOGY. 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