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

• Main Authors: Agrima Mian (Author), Kalpana Kumar (Author), Seema Kaushal (Author), Farhan Fazal (Author), Parul Kodan (Author), Atul Batra (Author), Prabhat Kumar (Author), Upendra Baitha (Author), Pankaj Jorwal (Author), Manish Soneja (Author), Mehar Chand Sharma (Author), Ashutosh Biswas (Author)
• Format: Book
• Published: University of São Paulo, 2019-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...