X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

Autor: Kraatari, Minna, Tuominen, Hannu, Tuupanen, Sari, Haapaniemi, Tarja, Moilanen, Jukka, Rahikkala, Elisa

Publikováno v: In European Journal of Medical Genetics November 2020 63(11)

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

Autor: Partanen, Terhi, Chen, Jie, Lehtonen, Johanna, Kuismin, Outi, Rusanen, Harri, Vapalahti, Olli, Vaheri, Antti, Anttila, Veli-Jukka, Bode, Michaela, Hautala, Nina, Vuorinen, Tytti, Glumoff, Virpi, Kraatari, Minna, Åström, Pirjo, Saarela, Janna, Kauma, Heikki, Lorenzo, Lazaro, Casanova, Jean-Laurent, Zhang, Shen-Ying, Seppänen, Mikko, Hautala, Timo

Publikováno v: Partanen, Terhi Chen, Jie Lehtonen, Johanna Kuismin, Outi Rusanen, Harri Vapalahti, Olli Vaheri, Antti Anttila, Veli-Jukka Bode, Michaela Hautala, Nina Vuorinen, Tytti Glumoff, Virpi Kraatari, Minna Åström, Pirjo Saarela, Janna Kauma, Heikki Lorenzo, Lazaro Casanova, Jean-Laurent Zhang, Shen-Ying Seppänen, Mikko Hautala, Timo . Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis. Jo
Jo

Externí odkaz: http://hdl.handle.net/10852/84050
https://www.duo.uio.no/bitstream/handle/10852/84050/1/Partanen2020_Article_HeterozygousTLR3MutationInPati.pdf

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.

Autor: Bharadwaj, Thashi, Schrauwen, Isabelle, Acharya, Anushree, Nouel‐Saied, Liz M., Väisänen, Marja‐Leena, Kraatari, Minna, Rahikkala, Elisa, Jarvela, Irma, Kotimäki, Jouko, Leal, Suzanne M.

Publikováno v: Molecular Genetics & Genomic Medicine; Mar2022, Vol. 10 Issue 3, p1-5, 5p

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Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation.

Autor: Hautala T; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Chen J; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Tervonen L; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Partanen T; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Winqvist S; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Lehtonen J; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Saarela J; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Kraatari M; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Kuismin O; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Vuorinen T; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Glumoff V; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Åström P; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Huuskonen U; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Lorenzo L; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Casanova JL; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Zhang SY; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland., Seppänen MRJ; Department of Internal Medicine (T.H., T.P.), Oulu University Hospital, Finland; Research Unit of Biomedicine (T.H., V.G., P.Å.), University of Oulu, Finland; St. Giles Laboratory of Human Genetics of Infectious Diseases (J.C., J.-L.C., S.-Y.Z.), Rockefeller Branch, The Rockefeller University, New York, NY; Department of Neurology (L.T., S.W.), Oulu University Hospital; Institute for Molecular Medicine Finland (J.L., J.S.), HiLIFE, and The Folkhälsan Research Center and Medicum (J.L.), University of Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Department of Clinical Genetics (M.K., O.K.), Oulu University Hospital, Finland; Department of Medical Microbiology (T.V.), Turku University Hospital and Institute of Biomedicine, University of Turku, Finland; Department of Clinical Neurophysiology (U.H.), Oulu University Hospital, Finland; Paris Descartes University (L.L., J.-L.C., S.-Y.Z.), Imagine Institute, Paris; Laboratory of Human Genetics of Infectious Diseases (J.-L.C., S.-Y.Z.), Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris; Pediatric Hematology-Immunology Unit (J.-L.C.), Necker Hospital for Sick Children, Paris, France; Howard Hughes Medical Institute (J.-L.C.), New York, NY; Adult Immunodeficiency Unit (M.R.J.S.), Infectious Diseases, Inflammation Center, University of Helsinki and HUS Helsinki University Hospital, Finland; and Rare Disease Center and Pediatric Research Center (M.R.J.S.), Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, Finland.

Publikováno v: Neurology. Genetics [Neurol Genet] 2020 Nov 25; Vol. 6 (6), pp. e532. Date of Electronic Publication: 2020 Nov 25 (Print Publication: 2020).