title: A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
authors.affiliation: Faculty of Medicine, Division of Pediatrics and Immunology, Ruth Rappaport Children Hospital, Technion, Haifa, Israel.
authors.forename: Suheir
authors.initials: S
authors.lastname: Hanna
authors.affiliation: Human Genetics of Infectious Diseases Laboratory, Imagine Institute, Paris, France.
authors.forename: Vivien
authors.initials: V
authors.lastname: Béziat
authors.affiliation: Human Genetics of Infectious Diseases Laboratory, Imagine Institute, Paris, France.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Jouanguy
authors.affiliation: Human Genetics of Infectious Diseases Laboratory, Imagine Institute, Paris, France; St Giles Lab of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY; Howard Hughes Medical Institute, New York, NY; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.
authors.forename: Jean Laurent
authors.initials: JL
authors.lastname: Casanova
authors.affiliation: Faculty of Medicine, Division of Pediatrics and Immunology, Ruth Rappaport Children Hospital, Technion, Haifa, Israel. Electronic address: etzioni@rambam.health.gov.il.
authors.forename: Amos
authors.initials: A
authors.lastname: Etzioni
mesh_terms: D004265:DNA Helicases / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D007694:Killer Cells, Natural; D009154:Mutation
chemical_list: C532890:RTEL1 protein, human; D004265:DNA Helicases