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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...
Zapisane w:
| Wydane w: | Autops Case Rep |
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| Główni autorzy: | , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
São Paulo, SP: Universidade de São Paulo, Hospital Universitário
2019
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6655852/ https://ncbi.nlm.nih.gov/pubmed/31440481 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4322/acr.2019.101 |
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