A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.

Chan, Alice Y; Punwani, Divya; Kadlecek, Theresa A; Cowan, Morton J; Olson, Jean L; Mathes, Erin F; Sunderam, Uma; Fu, Shu Man; Srinivasan, Rajgopal; Kuriyan, John; Brenner, Steven E; Weiss, Arthur; Puck, Jennifer M

Chan, Alice Y; Punwani, Divya; Kadlecek, Theresa A; Cowan, Morton J; Olson, Jean L; Mathes, Erin F; Sunderam, Uma; Fu, Shu Man; Srinivasan, Rajgopal; Kuriyan, John; Brenner, Steven E; Weiss, Arthur; Puck, Jennifer M.

Afiliación

Chan AY; Department of Pediatrics, University of California San Francisco School of Medicine, San Francisco, CA 94143.
Punwani D; Department of Pediatrics, University of California San Francisco School of Medicine, San Francisco, CA 94143.
Kadlecek TA; Department of Medicine, Rosalind Russell and Ephraim Engleman Rheumatology Research Center and Howard Hughes Medical Institute, University of California San Francisco School of Medicine, San Francisco, CA 94143.
Cowan MJ; Department of Pediatrics, University of California San Francisco School of Medicine, San Francisco, CA 94143.
Olson JL; Department of Pathology, University of California San Francisco School of Medicine, San Francisco, CA 94143.
Mathes EF; Department of Pediatrics, University of California San Francisco School of Medicine, San Francisco, CA 94143 Department of Dermatology, University of California San Francisco School of Medicine, San Francisco, CA 94143.
Sunderam U; Innovation Labs, Tata Consulting Services, Hyderabad 50019, Telangana, India.
Fu SM; Department of Medicine, University of Virginia School of Medicine, Charlottesville, VA 22908.
Srinivasan R; Innovation Labs, Tata Consulting Services, Hyderabad 50019, Telangana, India.
Kuriyan J; Department of Molecular and Cell Biology and Department of Chemistry, California Institute of Quantitative Biosciences and Howard Hughes Medical Institute and Physical Biosciences Division, Lawrence Berkeley National Laboratory, University of California, Berkeley, Berkeley, CA 94720.
Brenner SE; Department of Plant and Microbial Biology, University of California, Berkeley, Berkeley, CA 94720.
Weiss A; Department of Medicine, Rosalind Russell and Ephraim Engleman Rheumatology Research Center and Howard Hughes Medical Institute, University of California San Francisco School of Medicine, San Francisco, CA 94143.
Puck JM; Department of Pediatrics, University of California San Francisco School of Medicine, San Francisco, CA 94143 jennifer.puck@ucsf.edu.

J Exp Med ; 213(2): 155-65, 2016 Feb 08.

Article en En | MEDLINE | ID: mdl-26783323

Asunto(s)

Enfermedades Autoinmunes/enzimología; Enfermedades Autoinmunes/genética; Proteínas Mutantes/genética; Mutación Missense; Proteína Tirosina Quinasa ZAP-70/genética; Secuencia de Aminoácidos; Animales; Enfermedades Autoinmunes/inmunología; Secuencia de Bases; Línea Celular; Preescolar; Femenino; Trasplante de Células Madre Hematopoyéticas; Hemofilia A/enzimología; Hemofilia A/genética; Hemofilia A/inmunología; Heterocigoto; Humanos; Lactante; Masculino; Ratones; Modelos Moleculares; Datos de Secuencia Molecular; Proteínas Mutantes/química; Proteínas Mutantes/metabolismo; Linaje; Penfigoide Ampolloso/enzimología; Penfigoide Ampolloso/genética; Penfigoide Ampolloso/patología; Fenotipo; Conformación Proteica; Receptores de Antígenos de Linfocitos T/metabolismo; Inmunodeficiencia Combinada Grave/enzimología; Inmunodeficiencia Combinada Grave/genética; Inmunodeficiencia Combinada Grave/inmunología; Hermanos; Síndrome; Linfocitos T/enzimología; Linfocitos T/inmunología; Trasplante Homólogo; Proteína Tirosina Quinasa ZAP-70/química; Proteína Tirosina Quinasa ZAP-70/deficiencia; Proteína Tirosina Quinasa ZAP-70/inmunología; Proteína Tirosina Quinasa ZAP-70/metabolismo

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Mutación Missense / Proteína Tirosina Quinasa ZAP-70 / Proteínas Mutantes Tipo de estudio: Prognostic_studies Idioma: En Revista: J Exp Med Año: 2016 Tipo del documento: Article

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