Exome sequencing detected an extremely rare case of foetal onset familial haemophagocytic lymphohistiocytosis type 5 presenting with hydrops foetalis

• Main Authors: V. Thadchanamoorthy (Author), M. T. R. Jayatunga (Author), Kavinda Dayasiri (Author), E. Jasinge (Author), M. L. M. Jinnah (Author), C. Pereira (Author), V. Skrahina (Author), Markandu Thirukumar (Author)
• Format: Book
• Published: BMC, 2021-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive hyper-inflammatory syndrome which needs early accurate diagnosis and appropriate treatment to prevent complications and early mortality. Recently, it was reported that mutations i...