title: Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.
abstract: Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an autosomal recessive disorder of infancy and early childhood that impairs or abolishes lymphocyte cytotoxicity. We report the first case of FHL in an adult patient homozygous for A91V in PRF1 with tuberculosis. The monozygotic twin of the patient is healthy. A91V confers genetic susceptibility for the development of FHL, but is not enough to trigger the disease on its own. We discuss the role of the A91V change together with M. tuberculosis infection as synergistic factors in the late onset of FHL.
authors.affiliation: Department of Immunology, Hospital Universitario 12 de Octubre, Madrid, Spain.
authors.forename: Esther
authors.initials: E
authors.lastname: Mancebo
authors.forename: Luis M
authors.initials: LM
authors.lastname: Allende
authors.forename: María
authors.initials: M
authors.lastname: Guzmán
authors.forename: Estela
authors.initials: E
authors.lastname: Paz-Artal
authors.forename: Juana
authors.initials: J
authors.lastname: Gil
authors.forename: Ramón
authors.initials: R
authors.lastname: Urrea-Moreno
authors.forename: Eduardo
authors.initials: E
authors.lastname: Fernández-Cruz
authors.forename: Antoni
authors.initials: A
authors.lastname: Gayà
authors.forename: Javier
authors.initials: J
authors.lastname: Calvo
authors.forename: Aina
authors.initials: A
authors.lastname: Arbós
authors.forename: M Antonia
authors.initials: MA
authors.lastname: Durán
authors.forename: Ramón
authors.initials: R
authors.lastname: Canet
authors.forename: José
authors.initials: J
authors.lastname: Balanzat
authors.forename: María A
authors.initials: MA
authors.lastname: Udina
authors.forename: F Javier
authors.initials: FJ
authors.lastname: Vercher
mesh_terms: D006720:Homozygote; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000209:etiology*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins; D014376:Tuberculosis / Q000150:complications*; D014430:Twins, Monozygotic
chemical_list: D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin