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Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency.
Henrickson, Sarah E; Walter, Jolan E; Quinn, Colin; Kanakry, Jennifer A; Bardakjian, Tanya; Dimitrova, Dimana; Ujhazi, Boglarka; Csomos, Krisztian; Bosticardo, Marita; Dobbs, Kerry; Nasrallah, MacLean; Notarangelo, Luigi D; Holland, Steven M; Fadugba, Olajumoke.
Affiliation
  • Henrickson SE; The Children's Hospital of Philadelphia, Division of Allergy and Immunology and Institute for Immunology, University of Pennsylvania, Philadelphia, PA, 19104, USA. henricksons@email.chop.edu.
  • Walter JE; Morsani College of Medicine, Division of Allergy and Immunology, University of South Florida, Tampa, FL, 33620, USA.
  • Quinn C; Johns Hopkins All Children's Hospital, St. Petersburg, FL, 33701, USA.
  • Kanakry JA; Perelman School of Medicine, Department of Neurology, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Bardakjian T; Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
  • Dimitrova D; Perelman School of Medicine, Department of Neurology, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Ujhazi B; Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
  • Csomos K; Morsani College of Medicine, Division of Allergy and Immunology, University of South Florida, Tampa, FL, 33620, USA.
  • Bosticardo M; Johns Hopkins All Children's Hospital, St. Petersburg, FL, 33701, USA.
  • Dobbs K; Morsani College of Medicine, Division of Allergy and Immunology, University of South Florida, Tampa, FL, 33620, USA.
  • Nasrallah M; Johns Hopkins All Children's Hospital, St. Petersburg, FL, 33701, USA.
  • Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Disease, NIH, Bethesda, MD, USA.
  • Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Disease, NIH, Bethesda, MD, USA.
  • Fadugba O; Perelman School of Medicine, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
J Clin Immunol ; 38(6): 642-645, 2018 08.
Article in En | MEDLINE | ID: mdl-30159811
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / DNA-Binding Proteins / Immunologic Deficiency Syndromes / Muscular Diseases / Mutation Type of study: Diagnostic_studies Limits: Adult / Humans / Male Language: En Journal: J Clin Immunol Year: 2018 Document type: Article Affiliation country: United States Country of publication: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / DNA-Binding Proteins / Immunologic Deficiency Syndromes / Muscular Diseases / Mutation Type of study: Diagnostic_studies Limits: Adult / Humans / Male Language: En Journal: J Clin Immunol Year: 2018 Document type: Article Affiliation country: United States Country of publication: Netherlands