Gene abnormalities in patients with hemophagocytic lymphohistiocytosis
E Grunebaum, CM Roifman - IMAJ-RAMAT GAN-, 2002 - ima.org.il
Hemophagocytic lymphohistiocytosis is thought to occur as a primary (familial) form or
secondary to infection or malignancy. Recently, several defects in genes important for
immune functions were identified in patients with HLH [1]. These include mutations in
perforin, the gamma common chain, the receptor for interleukin-2, Slap and purine
nucleoside phosphorylase. Since abnormal function of these genes is associated with a
wide clinical spectrum, HLH is probably another manifestation of immune deficiency and a …
secondary to infection or malignancy. Recently, several defects in genes important for
immune functions were identified in patients with HLH [1]. These include mutations in
perforin, the gamma common chain, the receptor for interleukin-2, Slap and purine
nucleoside phosphorylase. Since abnormal function of these genes is associated with a
wide clinical spectrum, HLH is probably another manifestation of immune deficiency and a …
