title: Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies.
authors.affiliation: Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden; Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany; ImmunoDeficiencyCenter Leipzig at Hospital St Georg gGmbH Leipzig, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Leipzig, Germany. Electronic address: Stephan.Borte@ki.se.
authors.forename: Stephan
authors.initials: S
authors.lastname: Borte
authors.affiliation: Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
authors.forename: Marie
authors.initials: M
authors.lastname: Meeths
authors.affiliation: Medical Faculty, Institute of Biochemistry, Division of Molecular Biochemistry, University of Leipzig, Leipzig, Germany.
authors.forename: Ines
authors.initials: I
authors.lastname: Liebscher
authors.affiliation: Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Krist
authors.affiliation: Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.affiliation: Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
authors.forename: Lennart
authors.initials: L
authors.lastname: Hammarström
authors.affiliation: Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
authors.forename: Ulrika
authors.initials: U
authors.lastname: von Döbeln
authors.affiliation: Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
authors.forename: Jan-Inge
authors.initials: JI
authors.lastname: Henter
authors.affiliation: Department of Medicine, Centre for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden; Broegelmann Research Laboratory, The Gades Institute, University of Bergen, Bergen, Norway. Electronic address: Yenan.Bryceson@ki.se.
authors.forename: Yenan T
authors.initials: YT
authors.lastname: Bryceson
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology / Q000473:pathology*; D059788:Dried Blood Spot Testing; D042241:Early Diagnosis; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000473:pathology; D007231:Infant, Newborn; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics*; D015997:Neonatal Screening / Q000379:methods; D057345:Sequence Inversion; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology*
chemical_list: D008565:Membrane Proteins; C507969:UNC13D protein, human