Immunodeficiency in Familial Erythrophagocytic Lymphohistiocytosis

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

“…[5][6][7] Abnormalities in the function (but rarely the quantity) of cytotoxic immune cells, principally natural killer (NK) cells, but also cytotoxic T cells, have been observed in patients with HLH for nearly 20 years. [8][9][10][11] Several genetic changes are thought to contribute to the development of HLH. Linkage analysis identified two loci at 10q21 and 9q21; 12 13 additional studies provided evidence for the presence of at least one more locus.…”

Erythrophagocytic Lymphohistiocytosis: A Case Report

“…9 Marked hypertriglyceridemia, normal serum cholesterol levels, and high-density lipoprotein deficiency are common in FEL. [10][11][12] Such lipid abnormalities have been suggested as an early marker of FEL, 13 but Stark et al 6 found no correlation in their series of 11 patients. Impaired cellular and humoral immune functions were also reported frequently.…”

“…Impaired cellular and humoral immune functions were also reported frequently. 3,10,14 Immunodeficiency can be due to intrinsic defects in lymphocytes or secondary to some plasma factor such as hyperlipidemia.…”

Haemophagocytic lymphohistiocytosis in Adult- A Case Report and Literature Review

“…Infiltration of bone marrow or liver by activated macrophages, along with global clinical evaluation, may distinguish HLH from other causes of haemophagocytosis. Two highly sensitive diagnostic parameters are low natural killer (NK) cell activity , [67][68][69][70][71] and a hypercytokinemia, in particular elevated alpha chain of the soluble interleukin-2 receptor (sIL-2r) levels (sCD25) 71,72 in serum and in the CSF . 72,73 NK cell activity helps to differentiate between reactive form of HLH from familial type.…”