Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis.

Brohl, Andrew S; Stinson, Jeffrey R; Su, Helen C; Badgett, Thomas; Jennings, Chester D; Sukumar, Gauthaman; Sindiri, Sivasish; Wang, Wei; Kardava, Lela; Moir, Susan; Dalgard, Clifton L; Moscow, Jeffrey A; Khan, Javed; Snow, Andrew L

Brohl, Andrew S; Stinson, Jeffrey R; Su, Helen C; Badgett, Thomas; Jennings, Chester D; Sukumar, Gauthaman; Sindiri, Sivasish; Wang, Wei; Kardava, Lela; Moir, Susan; Dalgard, Clifton L; Moscow, Jeffrey A; Khan, Javed; Snow, Andrew L.

Afiliação

Brohl AS; Oncogenomics Section, Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 37 Convent Drive, Building 37, Room 2016B, Bethesda, MD, 20892, USA.
Stinson JR; Department of Pharmacology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd., Bethesda, MD, 20814, USA.
Su HC; Laboratory of Host Defenses, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, MD, USA.
Badgett T; Department of Pediatrics and Markey Cancer Center, College of Medicine, University of Kentucky, Lexington, KY, USA.
Jennings CD; Department of Pathology, College of Medicine, University of Kentucky, Lexington, KY, USA.
Sukumar G; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Sindiri S; Oncogenomics Section, Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 37 Convent Drive, Building 37, Room 2016B, Bethesda, MD, 20892, USA.
Wang W; Immunopathogenesis Section, Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.
Kardava L; Immunopathogenesis Section, Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.
Moir S; Immunopathogenesis Section, Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.
Dalgard CL; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Moscow JA; Department of Pediatrics and Markey Cancer Center, College of Medicine, University of Kentucky, Lexington, KY, USA.
Khan J; Oncogenomics Section, Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, 37 Convent Drive, Building 37, Room 2016B, Bethesda, MD, 20892, USA. khanjav@mail.nih.gov.
Snow AL; Department of Pharmacology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd., Bethesda, MD, 20814, USA. andrew.snow@usuhs.edu.

J Clin Immunol ; 35(1): 32-46, 2015 Jan.

Article em En | MEDLINE | ID: mdl-25352053

Assuntos

Proteínas Adaptadoras de Sinalização CARD/genética; Mutação em Linhagem Germinativa; Guanilato Ciclase/genética; Linfocitose/congênito; Linfocitose/genética; Substituição de Aminoácidos; Apoptose/genética; Linfócitos B/imunologia; Linfócitos B/metabolismo; Linfócitos B/patologia; Sequência de Bases; Proteínas Adaptadoras de Sinalização CARD/química; Proliferação de Células/genética; Criança; DNA/genética; Perfilação da Expressão Gênica; Guanilato Ciclase/química; Humanos; Ativação Linfocitária/genética; Linfocitose/imunologia; Masculino; Proteínas Mutantes/química; Proteínas Mutantes/genética; Mutação de Sentido Incorreto; NF-kappa B/metabolismo

Palavras-chave

B-cell lymphocytosis; BENTA; CARD11; NF-κB; congenital

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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 / Guanilato Ciclase / Linfocitose Limite: Child / Humans / Male Idioma: En Revista: J Clin Immunol Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos

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