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SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Delmonte, Ottavia M; Bergerson, Jenna R E; Kawai, Tomoki; Kuehn, Hye Sun; McDermott, David H; Cortese, Irene; Zimmermann, Michael T; Dobbs, A Kerry; Bosticardo, Marita; Fink, Danielle; Majumdar, Shamik; Palterer, Boaz; Pala, Francesca; Dsouza, Nikita R; Pouzolles, Marie; Taylor, Naomi; Calvo, Katherine R; Daley, Stephen R; Velez, Daniel; Agharahimi, Anahita; Myint-Hpu, Katherine; Dropulic, Lesia K; Lyons, Jonathan J; Holland, Steven M; Freeman, Alexandra F; Ghosh, Rajarshi; Similuk, Morgan B; Niemela, Julie E; Stoddard, Jennifer; Kuhns, Douglas B; Urrutia, Raul; Rosenzweig, Sergio D; Walkiewicz, Magdalena A; Murphy, Philip M; Notarangelo, Luigi D.
Affiliation
  • Delmonte OM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Bergerson JRE; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Kawai T; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Kuehn HS; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.
  • McDermott DH; Molecular Signaling Section, Laboratory of Molecular Immunology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Cortese I; Neuroimmunology Clinic, Division of Neuroimmunology and Neurovirology, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
  • Zimmermann MT; Division of Research, Genomics Sciences & Precision Medicine Center, Milwaukee, WI.
  • Dobbs AK; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI.
  • Bosticardo M; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Fink D; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Majumdar S; Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD.
  • Palterer B; Molecular Signaling Section, Laboratory of Molecular Immunology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Pala F; Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
  • Dsouza NR; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Pouzolles M; Division of Research, Genomics Sciences & Precision Medicine Center, Milwaukee, WI.
  • Taylor N; Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Calvo KR; Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Daley SR; Institut de Genetique Moleculaire de Montpellier, Centre National de la Recherche Scientifique Unité Mixte de Recherche (UMR) 5535, Universite de Montpellier, Montpellier, France.
  • Velez D; Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.
  • Agharahimi A; Centre for Immunology and Infection Control, School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia.
  • Myint-Hpu K; Molecular Signaling Section, Laboratory of Molecular Immunology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Dropulic LK; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Lyons JJ; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Holland SM; Laboratory of Infectious Disease and.
  • Freeman AF; Division of Intramural Research, Laboratory of Allergic Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD and.
  • Ghosh R; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Similuk MB; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Niemela JE; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Stoddard J; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
  • Kuhns DB; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.
  • Urrutia R; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.
  • Rosenzweig SD; Applied/Developmental Research Directorate, Leidos Biomedical Research, Inc, Frederick National Laboratory for Cancer Research, Frederick, MD.
  • Walkiewicz MA; Division of Research, Genomics Sciences & Precision Medicine Center, Milwaukee, WI.
  • Murphy PM; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI.
  • Notarangelo LD; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.
Blood ; 138(12): 1019-1033, 2021 09 23.
Article in En | MEDLINE | ID: mdl-33876203
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, X / X-Linked Combined Immunodeficiency Diseases / Mutation Type of study: Prognostic_studies Limits: Animals / Child, preschool / Humans / Male Language: En Journal: Blood Year: 2021 Document type: Article Affiliation country: Moldova Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, X / X-Linked Combined Immunodeficiency Diseases / Mutation Type of study: Prognostic_studies Limits: Animals / Child, preschool / Humans / Male Language: En Journal: Blood Year: 2021 Document type: Article Affiliation country: Moldova Country of publication: Estados Unidos