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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...
Autores principales: | Mian, Agrima, Kumari, Kalpana, Kaushal, Seema, Fazal, Farhan, Kodan, Parul, Batra, Atul, Kumar, Prabhat, Baitha, Upendra, Jorwal, Pankaj, Soneja, Manish, Sharma, Mehar Chand, Biswas, Ashutosh |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
São Paulo, SP: Universidade de São Paulo, Hospital Universitário
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6655852/ https://www.ncbi.nlm.nih.gov/pubmed/31440481 http://dx.doi.org/10.4322/acr.2019.101 |
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