{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:58:56Z","timestamp":1790974736034,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T00:00:00Z","timestamp":1626739200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["T32DK108735"],"award-info":[{"award-number":["T32DK108735"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pediatric acute liver failure (PALF) remains an enigmatic process of rapid end\u2010organ dysfunction associated with a variety of pathologic conditions though the predominant cause is indeterminate. A growing body of research has identified mutations in the <jats:italic>NBAS<\/jats:italic> gene to be associated with recurrent acute liver failure and multi\u2010systemic disease including short stature, skeletal dysplasia, facial dysmorphism, immunologic abnormalities, and Pelger\u2010Hu\u00ebt anomaly.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>Here, we describe a 4\u2010year\u2010old girl who presented with dehydration in the setting of acute gastroenteritis and fever but went on to develop PALF on day 2 of hospitalization. She clinically recovered with supportive measures, but after discharge, had at least 2 additional episodes of PALF. Ultimately, she underwent liver transplant and her recurrent episodes of PALF did not recur throughout a 6\u2010year follow\u2010up period. Whole\u2010exome sequencing post\u2010liver transplant initially revealed two variants of uncertain significance in the <jats:italic>NBAS<\/jats:italic> gene. Parental studies confirmed the c.1549C\u00a0&gt;\u00a0T(p.R517C; now likely pathogenic) variant from her mother and a novel c.4646T\u00a0&gt;\u00a0C(p.L1549P) variant from her father. In silico analyses predicted these variants to have a deleterious effect on protein function. Consistent with previously characterized NBAS mutation\u2010associated disease (NMAD), our patient demonstrated the following features: progeroid facial features, hypoplasia of the 12th ribs, Pelger\u2010Hu\u00ebt anomaly on peripheral blood smear, and abnormal B and NK cell function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Altogether, we describe a novel pathogenic variant in the <jats:italic>NBAS<\/jats:italic> gene of a patient with NMAD and report the resolution of recurrent PALF secondary to NMAD following liver transplantation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/petr.14084","type":"journal-article","created":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T02:10:25Z","timestamp":1626833425000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Resolution of recurrent pediatric acute liver failure with liver transplantation in a patient with <i>NBAS<\/i> mutation"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9270-2103","authenticated-orcid":false,"given":"Duke","family":"Geem","sequence":"first","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology and Nutrition Children's Healthcare of Atlanta Emory University School of Medicine Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenxiao","family":"Jiang","sequence":"additional","affiliation":[{"name":"Otogenetics Corporation Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather B.","family":"Rytting","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Healthcare of Atlanta Emory University School of Medicine Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanmuganathan","family":"Chandrakasan","sequence":"additional","affiliation":[{"name":"Division of Bone Marrow Transplant Aflac Cancer and Blood Disorders Center Children's Healthcare of Atlanta Emory University School of Medicine Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand","family":"Salem","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Emory University School of Medicine Children's Healthcare of Atlanta Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James P.","family":"Stevens","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology and Nutrition Children's Healthcare of Atlanta Emory University School of Medicine Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saul J.","family":"Karpen","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology and Nutrition Children's Healthcare of Atlanta Emory University School of Medicine Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph 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