title: Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.
authors.affiliation: Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital, Boston, Mass; Clinic for Primary Immunodeficiency, Medical Outpatient Clinic and Immunobiology Lab, University Hospital, Basel, Switzerland. Electronic address: recherm@uhbs.ch.
authors.forename: Mike
authors.initials: M
authors.lastname: Recher
authors.affiliation: Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
authors.forename: Marja-Liisa
authors.initials: ML
authors.lastname: Karjalainen-Lindsberg
authors.affiliation: Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
authors.forename: Mikael
authors.initials: M
authors.lastname: Lindlöf
authors.affiliation: Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
authors.forename: Maria
authors.initials: M
authors.lastname: Söderlund-Venermo
authors.affiliation: Department of Pediatrics, "Angelo Nocivelli" Institute for Molecular Medicine, and the Department of Pathology, Laboratory of Genetic Disorders of Childhood, Children's Hospital, Brescia, Italy.
authors.forename: Gaetana
authors.initials: G
authors.lastname: Lanzi
authors.affiliation: Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
authors.forename: Elina
authors.initials: E
authors.lastname: Väisänen
authors.affiliation: Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
authors.forename: Arun
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
authors.forename: Mohammadreza
authors.initials: M
authors.lastname: Sadeghi
authors.affiliation: Clinic for Primary Immunodeficiency, Medical Outpatient Clinic and Immunobiology Lab, University Hospital, Basel, Switzerland.
authors.forename: Christoph T
authors.initials: CT
authors.lastname: Berger
authors.affiliation: Genetics Laboratory, HUSLAB, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Tiina
authors.initials: T
authors.lastname: Alitalo
authors.affiliation: Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Pekka
authors.initials: P
authors.lastname: Anttila
authors.affiliation: Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Maija
authors.initials: M
authors.lastname: Kolehmainen
authors.affiliation: Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
authors.forename: Rauli
authors.initials: R
authors.lastname: Franssila
authors.affiliation: Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
authors.forename: Tingting
authors.initials: T
authors.lastname: Chen
authors.affiliation: Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
authors.forename: Sanna
authors.initials: S
authors.lastname: Siitonen
authors.affiliation: Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital, Boston, Mass.
authors.forename: Ottavia M
authors.initials: OM
authors.lastname: Delmonte
authors.affiliation: Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital, Boston, Mass.
authors.forename: Jolan E
authors.initials: JE
authors.lastname: Walter
authors.affiliation: Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital, Boston, Mass; Department of Pediatric Critical Care, Sheba Medical Center, Tel-Hashomer, and the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Itai
authors.initials: I
authors.lastname: Pessach
authors.affiliation: Clinic for Primary Immunodeficiency, Medical Outpatient Clinic and Immunobiology Lab, University Hospital, Basel, Switzerland.
authors.forename: Christoph
authors.initials: C
authors.lastname: Hess
authors.affiliation: Division of Genetics and Molecular Medicine, School of Medicine, King's College London, Guy's Hospital, London, United Kingdom.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Simpson
authors.affiliation: Division of Genetics and Molecular Medicine, School of Medicine, King's College London, Guy's Hospital, London, United Kingdom.
authors.forename: Alexander A
authors.initials: AA
authors.lastname: Navarini
authors.affiliation: Department of Pediatrics, "Angelo Nocivelli" Institute for Molecular Medicine, and the Department of Pathology, Laboratory of Genetic Disorders of Childhood, Children's Hospital, Brescia, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Giliani
authors.affiliation: Haartman Institute, University of Helsinki, and Helsinki University Central Hospital Laboratory Division, Helsinki, Finland.
authors.forename: Klaus
authors.initials: K
authors.lastname: Hedman
authors.affiliation: Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Mikko
authors.initials: M
authors.lastname: Seppänen
authors.affiliation: Division of Immunology and the Manton Center for Orphan Disease Research, Children's Hospital, Boston, Mass.
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D000818:Animals; D018797:Cell Cycle Proteins / Q000235:genetics* / Q000276:immunology; D005260:Female; D014644:Genetic Variation; D006801:Humans; D051379:Mice; D010641:Phenotype
chemical_list: D018797:Cell Cycle Proteins