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...

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محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Autops Case Rep
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: São Paulo, SP: Universidade de São Paulo, Hospital Universitário 2019
الموضوعات:
Article- Autopsy Case Report
الوصول للمادة أونلاين: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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