title: Gene abnormalities in patients with hemophagocytic lymphohistiocytosis.
abstract: 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. These include mutations in perforin, the gamma common chain of 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 thorough immune evaluation should be done in all such patients.
authors.affiliation: Division of Immunology, Program of Infection, Immunity, Injury and Repair, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Eyal
authors.initials: E
authors.lastname: Grunebaum
authors.forename: Chaim M
authors.initials: CM
authors.lastname: Roifman
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D015616:Histiocytosis, Non-Langerhans-Cell / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins; D011683:Purine-Nucleoside Phosphorylase / Q000235:genetics; D015375:Receptors, Interleukin-2 / Q000235:genetics; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D015375:Receptors, Interleukin-2; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D054353:Perforin; D011683:Purine-Nucleoside Phosphorylase