{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T04:39:46Z","timestamp":1777351186062,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T00:00:00Z","timestamp":1601337600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["Intramural research program"],"award-info":[{"award-number":["Intramural research program"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chediak\u2010Higashi disease is a rare disease caused by bi\u2010allelic mutations in the lysosomal trafficking regulator gene, <jats:italic>LYST<\/jats:italic>. Individuals typically present in early childhood with partial oculocutaneous albinism, a bleeding diathesis, recurrent infections secondary to immune dysfunction, and risk of developing hemophagocytic lymphohistiocytosis (HLH). Without intervention, mortality is high in the first decade of life. However, some individuals with milder phenotypes have attenuated hematologic and immunologic presentations, and lower risk of HLH. Both classic and milder phenotypes develop progressive neurodegeneration in early adulthood. Here we present a remarkable patient diagnosed with Chediak\u2010Higashi disease at age 67, many decades after the diagnosis is usually established. Diagnosis was suspected by observing the pathognomonic granules within leukocytes, and confirmed by identification of bi\u2010allelic mutations in <jats:italic>LYST<\/jats:italic>, reduced <jats:italic>LYST<\/jats:italic> mRNA expression, enlarged lysosomes within fibroblasts, and decreased NK cell lytic activity. This case further expands the phenotype of Chediak\u2010Higashi disease and highlights the need for increased awareness. Individuals with milder phenotypes may escape early diagnosis, but identification is important for close monitoring of potential complications, and to further our understanding of the function of LYST.<\/jats:p>","DOI":"10.1002\/ajmg.a.61886","type":"journal-article","created":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T11:59:09Z","timestamp":1601380749000},"page":"3007-3013","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Diagnosis of Chediak Higashi disease in a 67\u2010year old woman"],"prefix":"10.1002","volume":"182","author":[{"given":"David S.","family":"Yarnell","sequence":"first","affiliation":[{"name":"NIH Undiagnosed Diseases Program Common Fund, Office of the Director, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph C.","family":"Roney","sequence":"additional","affiliation":[{"name":"Section of the Human Biochemical Genetics Medical Genetics Branch, NHGRI, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cl\u00e1udia","family":"Teixeira","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology Centro Hospitalar Universit\u00e1rio de S. 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Fund, Office of the Director, NIH  Bethesda Maryland USA"},{"name":"Section of the Human Biochemical Genetics Medical Genetics Branch, NHGRI, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4727-8918","authenticated-orcid":false,"given":"Bernadette R.","family":"Gochuico","sequence":"additional","affiliation":[{"name":"Section of the Human Biochemical Genetics Medical Genetics Branch, NHGRI, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilo","family":"Toro","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program Common Fund, Office of the Director, NIH  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1697-6959","authenticated-orcid":false,"given":"May 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