{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:23:43Z","timestamp":1790231023212,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T00:00:00Z","timestamp":1763424000000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["T32\u2010GM107000"],"award-info":[{"award-number":["T32\u2010GM107000"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["T32\u2010AI132152"],"award-info":[{"award-number":["T32\u2010AI132152"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["F30\u2010HL154674"],"award-info":[{"award-number":["F30\u2010HL154674"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>MIRAGE syndrome is a multi\u2010organ disease caused by gain\u2010of\u2010function (GOF) mutations in the viral restriction factor SAMD9. Herein, we present the case of a 32\u2010week pre\u2010term female neonate with severe intrauterine growth restriction, primary adrenal insufficiency, and persistent thrombocytopenia. A rapid trio\u2010whole exome sequencing at 23\u2010days of age found a de novo SAMD9 G1048R mutation, consistent with a diagnosis of MIRAGE syndrome, and at this time was not found to have evidence of immune abnormalities or hematologic malignancy. Analysis of predicted tertiary structures from our patient\u2019s SAMD9 G1048R mutation demonstrated structural similarities to known SAMD9 GOF variants. Absence of immunologic and oncologic manifestations in this patient may relate to early identification and reflect low SAMD9 expression during the neonatal window. Risk for developing immune deficiency and malignancy may continue to increase as this patient grows older, thus requiring close outpatient surveillance to mitigate future risk of these complications.<\/jats:p>","DOI":"10.1002\/ccr3.71453","type":"journal-article","created":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T03:58:30Z","timestamp":1763524710000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Normal Immune Function in a Newborn With Early Identification of a\n                    <i>SAMD9<\/i>\n                    Mutation Presenting With Growth Restriction, Thrombocytopenia, and Primary Adrenal Insufficiency"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5855-1006","authenticated-orcid":false,"given":"Kevin MingJie","family":"Gao","sequence":"first","affiliation":[{"name":"Division of Innate Immunity, Department of Medicine UMass Chan Medical School  Worcester Massachusetts USA"},{"name":"Division of Rheumatology, Department of Medicine UMass Chan Medical School  Worcester Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiu Yu Judy","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biotechnology UMass Chan Medical School  Worcester Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polly","family":"Huang","sequence":"additional","affiliation":[{"name":"Division of Pediatric Allergy, Immunology, and Rheumatology, Department of Pediatrics Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anum","family":"Muzaffar","sequence":"additional","affiliation":[{"name":"Division of Pediatric Allergy, Immunology, and Rheumatology, Department of Pediatrics Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramin","family":"Beheshti","sequence":"additional","affiliation":[{"name":"Division of Pediatric Allergy, Immunology, and Rheumatology, Department of Pediatrics Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Wood","sequence":"additional","affiliation":[{"name":"Division of Pediatric Allergy, Immunology, and Rheumatology, Department of Pediatrics Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Dantzer","sequence":"additional","affiliation":[{"name":"Division of Pediatric Allergy, Immunology, and Rheumatology, Department of Pediatrics Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J.","family":"Gutierrez","sequence":"additional","affiliation":[{"name":"Division of Pediatric Allergy, Immunology, and Rheumatology, Department of Pediatrics Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,18]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13062\u2010017\u20100185\u20102"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.953707"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.adh8502"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2116550119"},{"key":"e_1_2_12_6_1","volume-title":"SAMD9 Mutations Database","author":"Sahoo 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