Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy.

Lawless, Dylan; Mistry, Anoop; Wood, Philip M; Stahlschmidt, Jens; Arumugakani, Gururaj; Hull, Mark; Parry, David; Anwar, Rashida; Carter, Clive; Savic, Sinisa

Lawless, Dylan; Mistry, Anoop; Wood, Philip M; Stahlschmidt, Jens; Arumugakani, Gururaj; Hull, Mark; Parry, David; Anwar, Rashida; Carter, Clive; Savic, Sinisa.

Afiliación

Lawless D; Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Wellcome Trust Brenner Building, St James's University Hospital, Beckett Street, Leeds, UK.
Mistry A; Department of Clinical Immunology and Allergy, St James's University Hospital, Beckett Street, Leeds, UK.
Wood PM; Department of Clinical Immunology and Allergy, St James's University Hospital, Beckett Street, Leeds, UK.
Stahlschmidt J; Department of Pathology, St James's University Hospital, Beckett Street, Leeds, UK.
Arumugakani G; Department of Clinical Immunology and Allergy, St James's University Hospital, Beckett Street, Leeds, UK.
Hull M; Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Wellcome Trust Brenner Building, St James's University Hospital, Beckett Street, Leeds, UK.
Parry D; Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh, UK.
Anwar R; Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Wellcome Trust Brenner Building, St James's University Hospital, Beckett Street, Leeds, UK.
Carter C; Department of Clinical Immunology and Allergy, St James's University Hospital, Beckett Street, Leeds, UK.
Savic S; Department of Clinical Immunology and Allergy, St James's University Hospital, Beckett Street, Leeds, UK. s.savic@leeds.ac.uk.

J Clin Immunol ; 37(7): 617-622, 2017 10.

Article en En | MEDLINE | ID: mdl-28808844

Asunto(s)

Inmunodeficiencia Variable Común/diagnóstico; Diabetes Mellitus/diagnóstico; Duodeno/fisiología; Atresia Intestinal/genética; Intestinos/fisiología; Proteínas/genética; Adolescente; Inmunodeficiencia Variable Común/genética; Diabetes Mellitus/genética; Duodeno/diagnóstico por imagen; Humanos; Cambio de Clase de Inmunoglobulina/genética; Memoria Inmunológica/genética; Intestinos/diagnóstico por imagen; Masculino; Mutación/genética; Linaje; Fenotipo; Proteínas/metabolismo; Repeticiones de Tetratricopéptidos/genética

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas / Inmunodeficiencia Variable Común / Diabetes Mellitus / Duodeno / Atresia Intestinal / Intestinos Límite: Adolescent / Humans / Male Idioma: En Revista: J Clin Immunol Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido

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