Article
Diagnosis of Chediak Higashi disease in a 67-year old woman.
American journal of medical genetics. Part A - 1 Dec 2020
Yarnell David S, Roney Joseph C, Teixeira Cláudia, Freitas Maria I, Cipriano Ana, Leuschner Pedro, Krzewski Konrad, Stephen Joshi, Dorward Heidi, Gahl William A, Gochuico Bernadette R, Toro Camilo, Malicdan May C, Introne Wendy J
Abstract excerpt
Chediak-Higashi disease is a rare disease caused by bi-allelic mutations in the lysosomal trafficking regulator gene, LYST. 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...
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