Trilineage hematopoietic recovery with romiplostim in a child with down syndrome and aplastic anemia: A case report and review of literature

Autor: Abla, Dima, Al Habsi, Huda, Al Rahbi, Nasser, Al Mughairy, Alyaa

Publikováno v: In Pediatric Hematology Oncology Journal September 2024 9(3):180-183

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.

Autor: Kaustio M; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Nayebzadeh N; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Biocenter Oulu, Oulu, Finland., Hinttala R; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Biocenter Oulu, Oulu, Finland., Tapiainen T; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Biocenter Oulu, Oulu, Finland; Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, Oulu, Finland., Åström P; Research Unit of Biomedicine, University of Oulu, Oulu, Finland., Mamia K; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway., Pernaa N; Research Unit of Biomedicine, University of Oulu, Oulu, Finland., Lehtonen J; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway; Folkhälsan Research Center, Helsinki, Finland., Glumoff V; Research Unit of Biomedicine, University of Oulu, Oulu, Finland., Rahikkala E; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland., Honkila M; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, Oulu, Finland., Olsén P; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, Oulu, Finland., Hassinen A; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Polso M; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Al Sukaiti N; Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, Muscat, Oman., Al Shekaili J; Department of Microbiology and Immunology, Sultan Qaboos University Hospital, Muscat, Oman., Al Kindi M; Department of Microbiology and Immunology, Sultan Qaboos University Hospital, Muscat, Oman., Al Hashmi N; Department of Clinical and Biochemical Genetics, The Royal Hospital, Muscat, Oman., Almusa H; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Bulanova D; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Copenhagen, Denmark., Haapaniemi E; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway; Department of Pediatric Research, Oslo University Hospital, Oslo, Norway; Research Programs Unit, Molecular Neurology and Biomedicum Stem Cell Centre, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Chen P; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Suo-Palosaari M; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Diagnostic Radiology, Oulu University Hospital and University of Oulu, Oulu, Finland; Research Unit of Medical Imaging, Physics and Technology, Faculty of Medicine, University of Oulu, Oulu, Finland., Vieira P; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, Oulu, Finland., Tuominen H; Department of Pathology, Oulu University Hospital, Oulu, Finland., Kokkonen H; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Clinical Genetics, Northern Finland Laboratory Centre, Oulu University Hospital, Oulu, Finland., Al Macki N; Department of Pediatric Neurology, The Royal Hospital, Muscat, Oman., Al Habsi H; Department of General Pediatrics, The Royal Hospital, Muscat, Oman., Löppönen T; Department of Pediatrics, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland., Rantala H; PEDEGO Research Unit, University of Oulu, Oulu, Finland., Pietiäinen V; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland., Zhang SY; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Paris Descartes University, Imagine Institute, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Children, Paris, France., Renko M; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Department of Pediatrics, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland., Hautala T; Research Unit of Biomedicine, University of Oulu, Oulu, Finland; Department of Internal Medicine, Oulu University Hospital, Oulu, Finland., Al Farsi T; Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, Muscat, Oman., Uusimaa J; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, Oulu, Finland., Saarela J; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland. Electronic address: janna.saarela@helsinki.fi.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2021 Aug; Vol. 148 (2), pp. 599-611. Date of Electronic Publication: 2021 Mar 01.