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Fatal familial hemophagocytic lymphohistiocytosis with perforin gene (PRF1) mutation and EBV-associated T-cell lymphoproliferative disorder of the thyroid

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare fatal autosomal recessive disorder of immune dysregulation. The disease presents most commonly in the first year of life; however, symptomatic presentation throughout childhood and adulthood has also been identified. Biallelic mutation in t...

詳細記述

保存先:
書誌詳細
出版年:Autopsy and Case Reports
主要な著者: Agrima Mian, Kalpana Kumari, Seema Kaushal, Farhan Fazal, Parul Kodan, Atul Batra, Prabhat Kumar, Upendra Baitha, Pankaj Jorwal, Manish Soneja, Mehar Chand Sharma, Ashutosh Biswas
フォーマット: Artigo
言語:Inglês
出版事項: Hospital Universitário da Universidade de São Paulo 2019
主題:
オンライン・アクセス:https://www.redalyc.org/articulo.oa?id=576062230004
https://www.redalyc.org/journal/5760/576062230004/
https://www.redalyc.org/journal/5760/576062230004/html/
https://www.redalyc.org/journal/5760/576062230004/576062230004.epub
https://www.redalyc.org/journal/5760/576062230004/movil
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