Open AccessFamily hemophagocytic lymphohistiocytosis: (2 clinical cases in one family)
Author(s) -
Н. А. Ефремова,
Л. Г. Горячева,
С. П. Каплина,
В. А. Грешнякова,
Anna A. Osipova,
Tatiana Bykova
Publication year - 2019
Publication title -
žurnal infektologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.185
H-Index - 5
eISSN - 2499-9865
pISSN - 2072-6732
DOI - 10.22625/2072-6732-2019-11-3-136-141
Subject(s) - hemophagocytic lymphohistiocytosis , histiocyte , peripheral blood , immunology , immune system , medicine , disease , pathology
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.