title: Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.
authors.affiliation: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, OH 45255, USA. kejian.zhang@cchmc.org
authors.forename: K
authors.initials: K
authors.lastname: Zhang
authors.forename: J A
authors.initials: JA
authors.lastname: Johnson
authors.forename: J
authors.initials: J
authors.lastname: Biroschak
authors.forename: J
authors.initials: J
authors.lastname: Villanueva
authors.forename: S Molleran
authors.initials: SM
authors.lastname: Lee
authors.forename: J J
authors.initials: JJ
authors.lastname: Bleesing
authors.forename: K A
authors.initials: KA
authors.lastname: Risma
authors.forename: R J
authors.initials: RJ
authors.lastname: Wenstrup
authors.forename: A H
authors.initials: AH
authors.lastname: Filipovich
mesh_terms: D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D005192:Family Health; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics* / Q000276:immunology; D008562:Membrane Glycoproteins / Q000235:genetics*; D020125:Mutation, Missense; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics*; D014633:Valine / Q000235:genetics
chemical_list: D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin; D014633:Valine; D000409:Alanine