Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

Autor: Keskitalo, Salla, Haapaniemi, Emma M., Glumoff, Virpi, Liu, Xiaonan, Lehtinen, Ville, Fogarty, Christopher, Rajala, Hanna, Chiang, Samuel C., Mustjoki, Satu, Kovanen, Panu, Lohi, Jouko, Bryceson, Yenan, Seppänen, Mikko, Kere, Juha, Heiskanen, Kaarina, Varjosalo, Markku

Publikováno v: Keskitalo, Salla Haapaniemi, Emma M. Glumoff, Virpi Liu, Xiaonan Lehtinen, Ville Fogarty, Christopher Rajala, Hanna Chiang, Samuel C. Mustjoki, Satu Kovanen, Panu Lohi, Jouko Bryceson, Yenan Seppänen, Mikko Kere, Juha Heiskanen, Kaarina Varjosalo, Markku . Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease. NPJ GENOMIC MEDICINE. 2019, 4:14, 1-7
NPJ GENOMIC MEDICINE

Externí odkaz: http://hdl.handle.net/10852/77845
https://www.duo.uio.no/bitstream/handle/10852/77845/2/s41525-019-0088-5.pdf

Large Granular Lymphocyte Infiltration in the Bone Marrow in Children and Young Adults May Suggest Primary Immune Deficiency

Autor: Taskinen, Mervi H ^*, Mustjoki, Satu, Jahnukainen, Kirsi ^*, Trotta, Luca ^*, Siitonen, Timo ^*, Hautala, Timo ^*, Zavialov, Andrey ^*, Heiskanen, Kaarina ^*, Haapaniemi, Emma M ^*, Saarela, Janna ^*, Seppänen, Mikko ^*

Publikováno v: In Blood 3 December 2015 126(23):1024-1024

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.

Autor: Keskitalo S; 1Institute of Biotechnology, University of Helsinki, Helsinki, Finland., Haapaniemi EM; 2Centre for Molecular Medicine Norway, University of Oslo, Oslo, Norway.; 3Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.; 4Biomedicum Stem Cell Center, University of Helsinki, Helsinki, Finland., Glumoff V; 5Research Unit of Biomedicine, Medical Microbiology and Immunology, University of Oulu, Oulu, Finland., Liu X; 1Institute of Biotechnology, University of Helsinki, Helsinki, Finland., Lehtinen V; 6Päijät-Häme Central Hospital, Lahti, Finland., Fogarty C; 7Folkhälsan Institute of Genetics, Helsinki, Finland.; 8Abdominal Center Nephrology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; 9Research Programs Unit, Diabetes, and Obesity, University of Helsinki, Helsinki, Finland., Rajala H; 10Hematology Research Unit Helsinki, Helsinki University Hospital Comprehensive Cancer Center, Helsinki, Finland.; 11Department of Clinical Chemistry, University of Helsinki, Helsinki, Finland., Chiang SC; 12Center for Hematology and Regenerative Medicine, Karolinska Institutet, Huddinge, Sweden., Mustjoki S; 10Hematology Research Unit Helsinki, Helsinki University Hospital Comprehensive Cancer Center, Helsinki, Finland.; 11Department of Clinical Chemistry, University of Helsinki, Helsinki, Finland., Kovanen P; 13Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Lohi J; 13Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Bryceson YT; 3Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden., Seppänen M; 14Rare Disease Center, Hospital for Children and Adolescents and Adult Immunodeficiency Unit, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kere J; 7Folkhälsan Institute of Genetics, Helsinki, Finland.; 15Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.; 16Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.; 17School of Basic and Medical Biosciences, King's College London, Guy's Hospital, London, UK., Heiskanen K; 18Hospital for Children and Adolescents, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Varjosalo M; 1Institute of Biotechnology, University of Helsinki, Helsinki, Finland.

Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2019 Jun 27; Vol. 4, pp. 14. Date of Electronic Publication: 2019 Jun 27 (Print Publication: 2019).