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Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.
Hedayat, Mona; Massaad, Michel J; Lee, Yu Nee; Conley, Mary Ellen; Orange, Jordan S; Ohsumi, Toshiro K; Al-Herz, Waleed; Notarangelo, Luigi D; Geha, Raif S; Chou, Janet.
Affiliation
  • Hedayat M; Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
  • Massaad MJ; Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
  • Lee YN; Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
  • Conley ME; St Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY.
  • Orange JS; Immunology, Allergy, and Rheumatology, Baylor College of Medicine and the Texas Children's Hospital, Houston, Tex.
  • Ohsumi TK; Department of Molecular Biology, Massachusetts General Hospital, Boston, Mass.
  • Al-Herz W; Faculty of Medicine, Department of Pediatrics, Kuwait University, Kuwait City, Kuwait.
  • Notarangelo LD; Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
  • Geha RS; Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.
  • Chou J; Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address: Janet.Chou@childrens.harvard.edu.
J Allergy Clin Immunol ; 134(4): 983-5.e1, 2014 Oct.
Article in En | MEDLINE | ID: mdl-24985406

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: B-Lymphocytes / Killer Cells, Natural / T-Lymphocytes / Homeodomain Proteins / Agammaglobulinemia Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Screening_studies Limits: Child / Child, preschool / Humans / Infant / Male Language: En Journal: J Allergy Clin Immunol Year: 2014 Document type: Article Country of publication: Estados Unidos

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: B-Lymphocytes / Killer Cells, Natural / T-Lymphocytes / Homeodomain Proteins / Agammaglobulinemia Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Screening_studies Limits: Child / Child, preschool / Humans / Infant / Male Language: En Journal: J Allergy Clin Immunol Year: 2014 Document type: Article Country of publication: Estados Unidos