{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T03:44:04Z","timestamp":1786160644677,"version":"build-2736575974"},"reference-count":47,"publisher":"Japan Endocrine Society","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2026]]},"DOI":"10.1507\/endocrj.ej25-0656","type":"journal-article","created":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T22:09:18Z","timestamp":1776895758000},"page":"975-982","source":"Crossref","is-referenced-by-count":1,"title":["Long-term survival in MIRAGE syndrome: Insights into systemic manifestations and management with review of literature"],"prefix":"10.1507","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-2601-7157","authenticated-orcid":false,"given":"Yuki","family":"Yamada","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology, Metabolism and Nephrology, Children\u2019s Medical Center, Osaka City General Hospital, Osaka 534-0021, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8688-1037","authenticated-orcid":false,"given":"Hidehito","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto 605-0981, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1768-6996","authenticated-orcid":false,"given":"Masashi","family":"Nishida","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto 605-0981, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4107-1046","authenticated-orcid":false,"given":"Zenro","family":"Kizaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto 605-0981, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-6823-9938","authenticated-orcid":false,"given":"Kanako","family":"Tanase-Nakao","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0940-4517","authenticated-orcid":false,"given":"Satoshi","family":"Narumi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1271-1577","authenticated-orcid":false,"given":"Jun","family":"Mori","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Metabolism and Nephrology, Children\u2019s Medical Center, Osaka City General Hospital, Osaka 534-0021, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"386","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1 Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, et al. (2016) SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet 48: 792\u2013797.","DOI":"10.1038\/ng.3569"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2 Zhang F, Ji Q, Chaturvedi J, Morales M, Mao Y, et al. (2023) Human SAMD9 is a poxvirus-activatable anticodon nuclease inhibiting codon-specific protein synthesis. Sci Adv 9: eadh8502.","DOI":"10.1126\/sciadv.adh8502"},{"key":"3","unstructured":"3 Tanase-Nakao K, Olson TS, Narumi S (2020) MIRAGE Syndrome. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, et al. (eds) GeneReviews<sup>\u00ae<\/sup>. University of Washington, Seattle, USA."},{"key":"4","doi-asserted-by":"crossref","unstructured":"4 Mitsui-Sekinaka K, Narumi S, Sekinaka Y, Uematsu K, Yoshida Y, et al. (2021) Clinical and immunological analyses of ten patients with MIRAGE syndrome. J Clin Immunol 41: 709\u2013711.","DOI":"10.1007\/s10875-020-00964-7"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5 Lu J, Ni J, Su H, He X, Lu W, et al. (2025) One-hour postload glucose is a more sensitive marker of impaired \u03b2-cell function than two-hour postload glucose. Diabetes 74: 36\u201342.","DOI":"10.2337\/db24-0652"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6 Buonocore F, K\u00fchnen P, Suntharalingham JP, Del Valle I, Digweed M, et al. (2017) Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. J Clin Invest 127: 1700\u20131713.","DOI":"10.1172\/JCI91913"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7 Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, et al. (2018) A novel SAMD9 mutation causing MIRAGE syndrome: an expansion and review of phenotype, dysmorphology, and natural history. Am J Med Genet A 176: 415\u2013420.","DOI":"10.1002\/ajmg.a.38557"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8 Yoshizaki K, Hachiya R, Tomobe Y, Kaku U, Akiba K, et al. (2019) MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: a case report. Clin Pediatr Endocrinol 28: 147\u2013153.","DOI":"10.1297\/cpe.28.147"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9 Peek CT, Silva-Carmona M, Bertuch AA, Nicholas SK, Vogel TP (2024) Novel SAMD9 variant causing MIRAGE syndrome treated with subcutaneous immunoglobulin. J Clin Immunol 45: 19.","DOI":"10.1007\/s10875-024-01808-4"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10 Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, et al. (2018) Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. J Med Genet 55: 81\u201385.","DOI":"10.1136\/jmedgenet-2017-105020"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11 Roucher-Boulez F, Mallet D, Chatron N, Dijoud F, Gorduza DB, et al. (2019) Reversion SAMD9 mutations modifying phenotypic expression of MIRAGE syndrome and allowing inheritance in a usually <i>de novo<\/i> disorder. Front Endocrinol (Lausanne) 10: 625.","DOI":"10.3389\/fendo.2019.00625"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12 Viaene AN, Harding BN (2020) The neuropathology of MIRAGE syndrome. J Neuropathol Exp Neurol 79: 458\u2013462.","DOI":"10.1093\/jnen\/nlaa009"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13 Perisa MP, Rose MJ, Varga E, Kamboj MK, Spencer JD, et al. (2019) A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases. Pediatr Blood Cancer 66: e27726.","DOI":"10.1002\/pbc.27726"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14 Cinleti T, G\u00fclen A, S\u00f6nmez B, G\u00fcrsoy S, Boyacio\u011flu \u00d6 K, et al. (2023) MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9. Clin Dysmorphol 32: 133\u2013138.","DOI":"10.1097\/MCD.0000000000000460"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15 Ahmed IA, Farooqi MS, Vander Lugt MT, Boklan J, Rose M, et al. (2019) Outcomes of hematopoietic cell transplantation in patients with Germline SAMD9\/SAMD9L mutations. Biol Blood Marrow Transplant 25: 2186\u20132196.","DOI":"10.1016\/j.bbmt.2019.07.007"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16 Ishiwa S, Kamei K, Tanase-Nakao K, Shibata S, Matsunami K, et al. (2020) A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report. BMC Nephrol 21: 340.","DOI":"10.1186\/s12882-020-02011-4"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17 Wilson DB, Bessler M, Ferkol TW, Shenoy S, Amano N, et al. (2018) Comment on: acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer 65: e26747.","DOI":"10.1002\/pbc.26747"},{"key":"18","doi-asserted-by":"publisher","unstructured":"18 Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, et al. (2018) A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. Blood 131: 717\u2013732.","DOI":"10.1182\/blood-2017-09-806489"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19 Go A, Lee BH, Choi JH, Jeong J, Jung E, et al. (2023) Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome. Front Endocrinol (Lausanne) 14: 1242387.","DOI":"10.3389\/fendo.2023.1242387"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20 Sarthy J, Zha J, Babushok D, Shenoy A, Fan JM, et al. (2018) Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. Blood Adv 2: 120\u2013125.","DOI":"10.1182\/bloodadvances.2017012682"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21 Janjua D, Shankar S, AlMaazmi M, Jadhav DV (2022) MIRAGE syndrome enteropathy responding to pancrelipase despite normal pancreatic fecal elastase: a case report. Am J Case Rep 23: e937057.","DOI":"10.12659\/AJCR.937057"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22 Rentas S, Pillai V, Wertheim GB, Akgumus GT, Nichols KE, et al. (2020) Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome. Cancer Genet 245: 42\u201348.","DOI":"10.1016\/j.cancergen.2020.06.002"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23 Onuma S, Wada T, Araki R, Wada K, Tanase-Nakao K, et al. (2020) MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene. Hum Genome Var 7: 4.","DOI":"10.1038\/s41439-020-0091-5"},{"key":"24","doi-asserted-by":"publisher","unstructured":"24 K\u0131z\u0131lcan \u00c7etin S, \u00d6zsu E, \u015e\u0131klar Z, \u00c7akmakl\u0131 HF, \u015eenyazar G, et al. (2024) Exploring multiple endocrinological issues and dysautonomia in a rare case: Hypoparathyroidism in MIRAGE syndrome. J Clin Res Pediatr Endocrinol doi: 10.4274\/jcrpe.galenos.2024.2023-12-4. Online ahead of print.","DOI":"10.4274\/jcrpe.galenos.2024.2023-12-4"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25 Basilious A, Basilious A, ElJalbout R, Robert MC (2022) Lacrimal gland hypoplasia and corneal anesthesia in MIRAGE syndrome: a case report and literature review. Cornea 41: 1041\u20131044.","DOI":"10.1097\/ICO.0000000000002900"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26 Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, et al. (2018) MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. PLoS One 13: e0206184.","DOI":"10.1371\/journal.pone.0206184"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27 Kim YM, Seo GH, Kim GH, Ko JM, Choi JH, et al. (2018) A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing. BMC Med Genet 19: 35.","DOI":"10.1186\/s12881-018-0546-4"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28 Zhang Y, Zhang Y, Zhang VW, Zhang C, Ding H, et al. (2019) Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness\u2014a case report for dual diagnosis. BMC Pediatr 19: 364.","DOI":"10.1186\/s12887-019-1733-y"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29 Mengen E, K\u00fc\u00e7\u00fck\u00e7ongar Yava\u015f A, U\u00e7akt\u00fcrk SA (2020) A rare etiology of 46,XY disorder of sex development and adrenal insufficiency: a case of MIRAGE syndrome caused by mutations in the SAMD9 gene. J Clin Res Pediatr Endocrinol 12: 206\u2013211.","DOI":"10.4274\/jcrpe.galenos.2019.2019.0053"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30 Sahoo SS, Pastor VB, Goodings C, Voss RK, Kozyra EJ, et al. (2021) Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9\/SAMD9L syndromes. Nat Med 27: 1806\u20131817.","DOI":"10.1038\/s41591-021-01511-6"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31 Dai J, Mei M, Li G, Wang L, Wang L (2024) MIRAGE syndrome due to a <i>de novo<\/i> SAMD9 c.2944C&gt;T (p.Arg982Cys) variant: a case report and relevant literature review. Clin Lab 70: 230507.","DOI":"10.7754\/Clin.Lab.2023.230507"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32 Csillag B, Ilencikova D, Meissl M, Webersinke G, Laccone F, et al. (2019) Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation. Pediatr Blood Cancer 66: e27589.","DOI":"10.1002\/pbc.27589"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33 Formankova R, Kanderova V, Rackova M, Svaton M, Brdicka T, et al. (2019) Novel SAMD9 mutation in a patient with immunodeficiency, neutropenia, impaired anti-CMV response, and severe gastrointestinal involvement. Front Immunol 10: 2194.","DOI":"10.3389\/fimmu.2019.02194"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34 Okafor D, AlRabadi L, Alper A, Jeffries L, McGrath J, et al. (2019) Refractory infantile chronic diarrhea and failure to thrive in a 6-month-old boy with a complex past medical history. Clin Pediatr (Phila) 58: 707\u2013710.","DOI":"10.1177\/0009922819832034"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35 Baquedano-Lobera I, Romero-Salas Y, Ros-Arnal I, Miramar-Gallart MD, L\u00f3pez-Pis\u00f3n J, et al. (2021) Achalasia as a symptom guide in MIRAGE syndrome: a novel case with p.R1293Q and p.R902W variants in the SAMD9 gene. Clin Genet 99: 740\u2013741.","DOI":"10.1111\/cge.13914"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36 Kawashima-Sonoyama Y, Okuno K, Dohmoto T, Tanase-Nakao K, Narumi S, et al. (2021) The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms. Hum Genome Var 8: 27.","DOI":"10.1038\/s41439-021-00158-6"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37 Chin X, Sreedharan AV, Tan EC, Wei H, Kuan JL, et al. (2021) MIRAGE syndrome caused by a <i>de novo<\/i> c.3406G&gt;C (p. Glu1136Gln) mutation in the SAMD9 gene presenting with neonatal adrenal insufficiency and recurrent intussusception: a case report. Front Endocrinol (Lausanne) 12: 742495.","DOI":"10.3389\/fendo.2021.742495"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38 Buchbinder D, Hsieh L, Frediani J, Zadeh N, Nael A (2022) MDS and MIRAGE. J Pediatr Hematol Oncol 44: 421\u2013422.","DOI":"10.1097\/MPH.0000000000002540"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39 Rubin LG, Levin MJ, Ljungman P, Davies EG, Avery R, et al. (2014) 2013 IDSA clinical practice guideline for vaccination of the immunocompromised host. Clin Infect Dis 58: e44\u2013e100.","DOI":"10.1093\/cid\/cit684"},{"key":"40","doi-asserted-by":"crossref","unstructured":"40 Miyazawa H, Wada T (2021) Reversion mosaicism in primary immunodeficiency diseases. Front Immunol 12: 783022.","DOI":"10.3389\/fimmu.2021.783022"},{"key":"41","doi-asserted-by":"crossref","unstructured":"41 Gorcenco S, Komulainen-Ebrahim J, Nordborg K, Suo-Palosaari M, Andr\u00e9asson S, et al. (2017) Ataxia-pancytopenia syndrome with SAMD9L mutations. Neurol Genet 3: e183.","DOI":"10.1212\/NXG.0000000000000183"},{"key":"42","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1186\/1471-2164-8-92","volume":"8","author":"CF Li","year":"2007","unstructured":"42 Li CF, MacDonald JR, Wei RY, Ray J, Lau K, et al. (2007) Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse. BMC Genomics 8: 92.","journal-title":"BMC Genomics","ISSN":"https:\/\/id.crossref.org\/issn\/1471-2164","issn-type":"print"},{"key":"43","doi-asserted-by":"publisher","unstructured":"43 Wu CC, Peterson A, Zinshteyn B, Regot S, Green R (2020) Ribosome collisions trigger general stress responses to regulate cell fate. Cell 182: 404\u2013416.e14.","DOI":"10.1016\/j.cell.2020.06.006"},{"key":"44","doi-asserted-by":"crossref","unstructured":"44 Costa-Mattioli M, Walter P (2020) The integrated stress response: From mechanism to disease. Science 368: eaat5314.","DOI":"10.1126\/science.aat5314"},{"key":"45","doi-asserted-by":"crossref","unstructured":"45 Kulkarni A, Muralidharan C, May SC, Tersey SA, Mirmira RG (2022) Inside the \u03b2 cell: molecular stress response pathways in diabetes pathogenesis. Endocrinology 164: bqac184.","DOI":"10.1210\/endocr\/bqac184"},{"key":"46","doi-asserted-by":"crossref","unstructured":"46 Wandinger-Ness A, Zerial M (2014) Rab proteins and the compartmentalization of the endosomal system. Cold Spring Harb Perspect Biol 6: a022616.","DOI":"10.1101\/cshperspect.a022616"},{"key":"47","doi-asserted-by":"crossref","unstructured":"47 Wek RC (2018) Role of eIF2\u03b1 kinases in translational control and adaptation to cellular stress. Cold Spring Harb Perspect Biol 10: a032870.","DOI":"10.1101\/cshperspect.a032870"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/73\/8\/73_EJ25-0656\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T03:28:54Z","timestamp":1786159734000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/73\/8\/73_EJ25-0656\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":47,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej25-0656","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026]]},"article-number":"EJ25-0656"}}