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Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang, Yu; Yu, Xiaomin; Ichikawa, Mie; Lyons, Jonathan J; Datta, Shrimati; Lamborn, Ian T; Jing, Huie; Kim, Emily S; Biancalana, Matthew; Wolfe, Lynne A; DiMaggio, Thomas; Matthews, Helen F; Kranick, Sarah M; Stone, Kelly D; Holland, Steven M; Reich, Daniel S; Hughes, Jason D; Mehmet, Huseyin; McElwee, Joshua; Freeman, Alexandra F; Freeze, Hudson H; Su, Helen C; Milner, Joshua D.
Afiliação
  • Zhang Y; Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Yu X; Laboratory of Allergic Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Ichikawa M; Sanford-Burnham Medical Research Institute, La Jolla, Calif.
  • Lyons JJ; Laboratory of Allergic Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Datta S; Laboratory of Allergic Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Lamborn IT; Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Jing H; Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Kim ES; Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Biancalana M; Laboratory of Immunology, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Wolfe LA; Undiagnosed Diseases Program, National Human Genome Research Institute, Bethesda, Md.
  • DiMaggio T; Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Matthews HF; Laboratory of Immunology, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Kranick SM; Section of Infections of the Nervous System, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Md.
  • Stone KD; Laboratory of Allergic Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Holland SM; Laboratory of Clinical Infectious Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Reich DS; Neuroimmunology Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Md.
  • Hughes JD; Merck Research Laboratories, Merck & Co, Boston, Mass.
  • Mehmet H; Merck Research Laboratories, Merck & Co, Boston, Mass.
  • McElwee J; Merck Research Laboratories, Merck & Co, Boston, Mass.
  • Freeman AF; Laboratory of Clinical Infectious Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Freeze HH; Laboratory of Immunology, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Su HC; Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: hsu@niaid.nih.gov.
  • Milner JD; Laboratory of Allergic Diseases, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: jdmilner@niaid.nih.gov.
J Allergy Clin Immunol ; 133(5): 1400-9, 1409.e1-5, 2014 May.
Article em En | MEDLINE | ID: mdl-24589341

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoglucomutase / Doenças Autoimunes / Imunodeficiência de Variável Comum / Transtornos Cognitivos / Doenças Genéticas Inatas / Hipersensibilidade / Mutação Tipo de estudo: Prognostic_studies Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Moldávia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoglucomutase / Doenças Autoimunes / Imunodeficiência de Variável Comum / Transtornos Cognitivos / Doenças Genéticas Inatas / Hipersensibilidade / Mutação Tipo de estudo: Prognostic_studies Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Moldávia