Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development.

Yu, Xiaomin; Almeida, Jorge R; Darko, Sam; van der Burg, Mirjam; DeRavin, Suk See; Malech, Harry; Gennery, Andrew; Chinn, Ivan; Markert, Mary Louise; Douek, Daniel C; Milner, Joshua D

Yu, Xiaomin; Almeida, Jorge R; Darko, Sam; van der Burg, Mirjam; DeRavin, Suk See; Malech, Harry; Gennery, Andrew; Chinn, Ivan; Markert, Mary Louise; Douek, Daniel C; Milner, Joshua D.

Afiliación

Yu X; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Almeida JR; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Darko S; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
van der Burg M; Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
DeRavin SS; Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Malech H; Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Gennery A; Department of Paediatric Immunology, Newcastle University, Newcastle upon Tyne, United Kingdom; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
Chinn I; Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, Durham, NC.
Markert ML; Department of Pediatrics, Division of Allergy and Immunology, Duke University Medical Center, Durham, NC; Department of Immunology, Duke University Medical Center, Durham, NC.
Douek DC; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: ddouek@mail.nih.gov.
Milner JD; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: jdmilner@niaid.nih.gov.

J Allergy Clin Immunol ; 133(4): 1109-15, 2014 Apr.

Article en En | MEDLINE | ID: mdl-24406074

Asunto(s)

Síndromes de Inmunodeficiencia/genética; Receptores de Antígenos de Linfocitos T/genética; Sustitución de Aminoácidos; Estudios de Casos y Controles; Niño; Preescolar; Regiones Determinantes de Complementariedad/genética; Proteínas de Unión al ADN/genética; Proteínas de Homeodominio/genética; Humanos; Síndromes de Inmunodeficiencia/inmunología; Lactante; Subunidad gamma Común de Receptores de Interleucina/genética; Masculino; Mutación; Proteínas Nucleares/genética; Receptores de Antígenos de Linfocitos T alfa-beta/genética; Análisis de Secuencia de ADN; Inmunodeficiencia Combinada Grave/genética; Subgrupos de Linfocitos T/inmunología; Subgrupos de Linfocitos T/metabolismo; Proteína Tirosina Quinasa ZAP-70/genética

Palabras clave

Omenn syndrome; T-cell receptor; T-cell receptor sequencing; recombination activating gene

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores de Antígenos de Linfocitos T / Síndromes de Inmunodeficiencia Tipo de estudio: Observational_studies / Qualitative_research / Risk_factors_studies Límite: Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: J Allergy Clin Immunol Año: 2014 Tipo del documento: Article País de afiliación: Moldova

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