Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.

ABSTRACT: The human immune system depends on the activity of cytotoxic T lymphocytes (CTL), natural killer (NK) cells, and NKT cells in order to fight off a viral infection. Understanding the molecular mechanisms during this process and the role of individual proteins was greatly improved by the study of familial hemophagocytic lymphohistiocytosis (FHL). Since 1999, genetic sequencing is the gold standard to classify patients into different subgroups of FHL. The diagnosis, once based on a clinical constellation of abnormalities, is now strongly supported by the results of a functional flow-cytometry screening, which directs the genetic study. A few additional congenital immune deficiencies can also cause a resembling or even identical clinical picture to FHL. As in many other rare human disorders, t

SUBMITTER: Sieni E 

PROVIDER: S-EPMC3997030 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature