title: Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient.
authors.affiliation: Department of Immunology and Oncology, National Centre for Biotechnology, CSIC, Madrid, Spain. Electronic address: mvales@cnb.csic.es.
authors.forename: Mar
authors.initials: M
authors.lastname: Valés-Gómez
authors.affiliation: Department of Immunology and Oncology, National Centre for Biotechnology, CSIC, Madrid, Spain.
authors.forename: Gloria
authors.initials: G
authors.lastname: Esteso
authors.affiliation: Department of Pediatric Immunology, Istanbul Kanuni Sultan Süleyman Hospital, Istanbul, Turkey.
authors.forename: Cigdem
authors.initials: C
authors.lastname: Aydogmus
authors.affiliation: Department of Immunology and Oncology, National Centre for Biotechnology, CSIC, Madrid, Spain.
authors.forename: Alfonso
authors.initials: A
authors.lastname: Blázquez-Moreno
authors.affiliation: Department of Immunology, Complutense University School of Medicine and Hospital 12 de Octubre Health Research Institute, Madrid, Spain.
authors.forename: Ana V
authors.initials: AV
authors.lastname: Marín
authors.affiliation: Department of Immunology, Complutense University School of Medicine and Hospital 12 de Octubre Health Research Institute, Madrid, Spain.
authors.forename: Alejandro C
authors.initials: AC
authors.lastname: Briones
authors.affiliation: Department of Immunology, Complutense University School of Medicine and Hospital 12 de Octubre Health Research Institute, Madrid, Spain.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Garcillán
authors.affiliation: Department of Immunology and Oncology, National Centre for Biotechnology, CSIC, Madrid, Spain.
authors.forename: Eva-María
authors.initials: EM
authors.lastname: García-Cuesta
authors.affiliation: Department of Immunology and Oncology, National Centre for Biotechnology, CSIC, Madrid, Spain.
authors.forename: Sheila
authors.initials: S
authors.lastname: López Cobo
authors.affiliation: Department of Pediatric Immunology-Allergy, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Sule
authors.initials: S
authors.lastname: Haskologlu
authors.affiliation: Immunogenetics-HLA, Instituto de Investigación Sanitaria Puerta de Hierro, Madrid, Spain.
authors.forename: Manuela
authors.initials: M
authors.lastname: Moraru
authors.affiliation: Department of Pediatric Immunology, Istanbul Kanuni Sultan Süleyman Hospital, Istanbul, Turkey.
authors.forename: Funda
authors.initials: F
authors.lastname: Cipe
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass.
authors.forename: Kerry
authors.initials: K
authors.lastname: Dobbs
authors.affiliation: Department of Pediatric Immunology-Allergy, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Figen
authors.initials: F
authors.lastname: Dogu
authors.affiliation: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Parolini
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass.
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.affiliation: Immunogenetics-HLA, Instituto de Investigación Sanitaria Puerta de Hierro, Madrid, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: Vilches
authors.affiliation: Department of Immunology, Complutense University School of Medicine and Hospital 12 de Octubre Health Research Institute, Madrid, Spain.
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Recio
authors.affiliation: Department of Immunology, Complutense University School of Medicine and Hospital 12 de Octubre Health Research Institute, Madrid, Spain.
authors.forename: José R
authors.initials: JR
authors.lastname: Regueiro
authors.affiliation: Department of Pediatric Immunology-Allergy, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Aydan
authors.initials: A
authors.lastname: Ikinciogullari
authors.affiliation: Department of Immunology and Oncology, National Centre for Biotechnology, CSIC, Madrid, Spain. Electronic address: htreyburn@cnb.csic.es.
authors.forename: Hugh T
authors.initials: HT
authors.lastname: Reyburn
mesh_terms: D017252:CD3 Complex / Q000235:genetics*; D015870:Gene Expression; D005838:Genotype; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology* / Q000378:metabolism*; D017384:Sequence Deletion
chemical_list: D017252:CD3 Complex; C121704:CD3 antigen, zeta chain