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Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.
Chitty-Lopez, Maria; Westermann-Clark, Emma; Dawson, Irina; Ujhazi, Boglarka; Csomos, Krisztian; Dobbs, Kerry; Le, Khuong; Yamazaki, Yasuhiro; Sadighi Akha, Amir A; Chellapandian, Deepak; Oshrine, Ben; Notarangelo, Luigi D; Sunkersett, Gauri; Leiding, Jennifer W; Walter, Jolan E.
Afiliación
  • Chitty-Lopez M; Division of Pediatric Allergy/Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Westermann-Clark E; Division of Pediatric Allergy/Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Dawson I; Division of Pediatric Allergy/Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Ujhazi B; Division of Pediatric Allergy/Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Csomos K; Division of Pediatric Allergy/Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Dobbs K; Laboratory of Clinical Immunology and Microbiology, NIAID, National Institutes of Health, Bethesda, MD, United States.
  • Le K; Laboratory of Clinical Immunology and Microbiology, NIAID, National Institutes of Health, Bethesda, MD, United States.
  • Yamazaki Y; Laboratory of Clinical Immunology and Microbiology, NIAID, National Institutes of Health, Bethesda, MD, United States.
  • Sadighi Akha AA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.
  • Chellapandian D; Cancer and Blood Disorders Institute, Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Oshrine B; Cancer and Blood Disorders Institute, Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, NIAID, National Institutes of Health, Bethesda, MD, United States.
  • Sunkersett G; Cancer and Blood Disorders Institute, Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Leiding JW; Division of Pediatric Allergy/Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Walter JE; Division of Pediatric Allergy/Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
Front Immunol ; 11: 1954, 2020.
Article en En | MEDLINE | ID: mdl-33117328
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Tamizaje Neonatal / Inmunodeficiencia Combinada Grave / Proteínas de Homeodominio / Trasplante de Células Madre Hematopoyéticas Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans / Male / Newborn Idioma: En Revista: Front Immunol Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Tamizaje Neonatal / Inmunodeficiencia Combinada Grave / Proteínas de Homeodominio / Trasplante de Células Madre Hematopoyéticas Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Humans / Male / Newborn Idioma: En Revista: Front Immunol Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos