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A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family.
Desjardins, Marylin; Arjunaraja, Swadhinya; Stinson, Jeffrey R; Dorjbal, Batsukh; Sundaresan, Janani; Niemela, Julie; Raffeld, Mark; Matthews, Helen F; Wang, Angela; Angelus, Pamela; Su, Helen C; Mazer, Bruce D; Snow, Andrew L.
Afiliação
  • Desjardins M; Division of Allergy and Immunology, Department of Paediatrics, McGill University Health Centre, Montreal, QC, Canada.
  • Arjunaraja S; Meakins-Christie Laboratories of the Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
  • Stinson JR; Department of Pharmacology and Molecular Therapeutics, Uniformed Services University of Health Sciences, Bethesda, MD, United States.
  • Dorjbal B; Department of Pharmacology and Molecular Therapeutics, Uniformed Services University of Health Sciences, Bethesda, MD, United States.
  • Sundaresan J; Department of Pharmacology and Molecular Therapeutics, Uniformed Services University of Health Sciences, Bethesda, MD, United States.
  • Niemela J; Department of Pharmacology and Molecular Therapeutics, Uniformed Services University of Health Sciences, Bethesda, MD, United States.
  • Raffeld M; Department of Laboratory Medicine, NIH Clinical Center, Bethesda, MD, United States.
  • Matthews HF; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States.
  • Wang A; Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • Angelus P; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • Su HC; Clinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research, Inc., National Cancer Institute at Frederick, Frederick, MD, United States.
  • Mazer BD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
  • Snow AL; Clinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research, Inc., National Cancer Institute at Frederick, Frederick, MD, United States.
Front Immunol ; 9: 2944, 2018.
Article em En | MEDLINE | ID: mdl-30619304
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Proteínas Adaptadoras de Sinalização CARD / Mutação com Ganho de Função / Guanilato Ciclase / Síndromes de Imunodeficiência / Transtornos Linfoproliferativos Limite: Female / Humans / Infant / Male Idioma: En Revista: Front Immunol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Proteínas Adaptadoras de Sinalização CARD / Mutação com Ganho de Função / Guanilato Ciclase / Síndromes de Imunodeficiência / Transtornos Linfoproliferativos Limite: Female / Humans / Infant / Male Idioma: En Revista: Front Immunol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá