Family hemophagocytic lymphohistiocytosis: (2 clinical cases in one family)
oleh: N. A. Efremova, L. G. Goryacheva, S. P. Kaplina, V. A. Greshnyakova, A. A. Osipova, T. A. Bykova
| Format: | Article |
|---|---|
| Diterbitkan: | Journal Infectology 2019-10-01 |
Deskripsi
Family hemophagocytic lymphohistiocytosis (hemophagocytic syndrome) is a rare hereditary disease, which is based on a disturbance of the regulation of the immune response, leading to proliferation and activation of histiocytes, phagocytosis of peripheral blood cells. The most common mutations include – PRF1, UNC13D, STX11. Two cases of familial hemophagocytic lymphogystyocytosis in children of an early age from a single family, features of the course are described.