Contemporary diagnostic methods for hemophagocytic lymphohistiocytic disorders.
Hemophagocytic lymphohistiocytosis is a life-threatening multi-system hyperinflammatory disorder characterized by dysfunctional cytolytic lymphocyte responses, hypercytokinemia, and widespread lymphohistiocytic tissue infiltration and destruction. Diagnosis and definitive therapy are often delayed as clinical efforts are directed toward treatment of presumed overwhelming infection. Sporadic cases occur in association with underlying immune dysfunction related to autoimmune disease, malignancy, or severe infection. However, familial cases predominate with remarkable associations between underlying genetic defects and dysregulation of immune responses. Here, we review the genetic and immunologic basis of contemporary diagnostic methods for hemophagocytic lymphohistiocytosis.
Immunotherapy Center, Medical College of Georgia, 1120 Fifteenth Street, Augusta, GA, USA.
Theodore S
TS
Johnson
Joyce
J
Villanueva
Alexandra H
AH
Filipovich
Rebecca A
RA
Marsh
Jack J
JJ
Bleesing
D001327:Autoimmune Diseases / Q000150:complications / Q000175:diagnosis*; D015551:Autoimmunity; D016207:Cytokines / Q000276:immunology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007239:Infections / Q000150:complications / Q000175:diagnosis*; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000209:etiology; D009369:Neoplasms / Q000150:complications / Q000175:diagnosis*; D057089:Pathology, Molecular / Q000379:methods; D011110:Polymorphism, Genetic; D013602:T-Lymphocytes, Cytotoxic / Q000276:immunology
D016207:Cytokines