title: Haemophagocytic lymphohistiocytosis in X-linked severe combined immunodeficiency.
abstract: Haemophagocytic lymphohistiocytosis (HLH) is characterized by destruction of haematopoietic elements, and is associated with a variety of manifestations including immune abnormalities. We describe an infant with HLH who had no evidence of infection or malignancy. He had markedly reduced natural killer (NK) and T-cell numbers and mitogen responses, consistent with severe combined immune deficiency. Western blot and flow cytometry analyses revealed an absence of interleukin (IL)-2 receptor gamma (gamma common) chain expression and a transition (C --> T) at nucleotide 684 in the gamma common gene. This novel case highlights the need for a thorough evaluation of immunological phenotype and genotype in patients with HLH.
authors.affiliation: Division of Immunology/Allergy, Department of Paediatrics, The Infection, Immunity, Injury and Repair Program, Research Institute, The Hospital for Sick Children and The University of Toronto, Canada.
authors.forename: E
authors.initials: E
authors.lastname: Grunebaum
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.forename: H
authors.initials: H
authors.lastname: Dadi
authors.forename: C M
authors.initials: CM
authors.lastname: Roifman
mesh_terms: D015153:Blotting, Western; D002461:Cell Line, Transformed; D005434:Flow Cytometry; D008040:Genetic Linkage; D015616:Histiocytosis, Non-Langerhans-Cell / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation; D015375:Receptors, Interleukin-2 / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D014960:X Chromosome
chemical_list: D015375:Receptors, Interleukin-2