A Novel, Heterozygous Three Base-Pair Deletion in CARD11 Results in B Cell Expansion with NF-&#954;B and T Cell Anergy Disease.

Shields, Adrian M; Bauman, Bradly M; Hargreaves, Chantal E; Pollard, Andrew J; Snow, Andrew L; Patel, Smita Y

A Novel, Heterozygous Three Base-Pair Deletion in CARD11 Results in B Cell Expansion with NF-κB and T Cell Anergy Disease.

Shields, Adrian M; Bauman, Bradly M; Hargreaves, Chantal E; Pollard, Andrew J; Snow, Andrew L; Patel, Smita Y.

Afiliación

Shields AM; Clinical Immunology Service, Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham, West Midlands, B15 2TT, UK. a.m.shields@bham.ac.uk.
Bauman BM; Department of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Hargreaves CE; Department of Clinical Immunology, John Radcliffe Hospital, Oxford, OX3 9DU, UK.
Pollard AJ; NIHR Oxford Biomedical Research Centre, Oxford, UK.
Snow AL; Oxford Vaccine Group, Department of Paediatrics, University of Oxford, Oxford, UK.
Patel SY; Department of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.

J Clin Immunol ; 40(2): 406-411, 2020 02.

Article en En | MEDLINE | ID: mdl-31897776

Asunto(s)

Linfocitos B/fisiología; Proteínas Adaptadoras de Señalización CARD/genética; Guanilato Ciclasa/genética; Síndromes de Inmunodeficiencia/genética; Linfocitosis/genética; FN-kappa B/metabolismo; Linfocitos T/inmunología; Emparejamiento Base/genética; Proliferación Celular; Células Cultivadas; Niño; Preescolar; Anergia Clonal; Femenino; Heterocigoto; Humanos; Lactante; Activación de Linfocitos; Eliminación de Secuencia/genética

Palabras clave

BENTA; CARD11; Primary immunodeficiency

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Linfocitos B / Linfocitos T / FN-kappa B / Proteínas Adaptadoras de Señalización CARD / Guanilato Ciclasa / Síndromes de Inmunodeficiencia / Linfocitosis Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant Idioma: En Revista: J Clin Immunol Año: 2020 Tipo del documento: Article

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