Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

Keller, Michael D; Pandey, Rahul; Li, Dong; Glessner, Joseph; Tian, Lifeng; Henrickson, Sarah E; Chinn, Ivan K; Monaco-Shawver, Linda; Heimall, Jennifer; Hou, Cuiping; Otieno, Frederick G; Jyonouchi, Soma; Calabrese, Leonard; van Montfrans, Joris; Orange, Jordan S; Hakonarson, Hakon

Keller, Michael D; Pandey, Rahul; Li, Dong; Glessner, Joseph; Tian, Lifeng; Henrickson, Sarah E; Chinn, Ivan K; Monaco-Shawver, Linda; Heimall, Jennifer; Hou, Cuiping; Otieno, Frederick G; Jyonouchi, Soma; Calabrese, Leonard; van Montfrans, Joris; Orange, Jordan S; Hakonarson, Hakon.

Afiliación

Keller MD; Division of Allergy and Immunology, Children's National Medical Center, Washington, DC.
Pandey R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pa.
Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pa.
Glessner J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pa.
Tian L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pa.
Henrickson SE; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, Pa.
Chinn IK; Division of Immunology, Allergy, and Rheumatology, Texas Children's Hospital, Houston, Tex; Baylor Genomics Institute, Baylor College of Medicine, Houston, Tex.
Monaco-Shawver L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pa; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, Pa.
Heimall J; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, Pa.
Hou C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pa.
Otieno FG; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pa.
Jyonouchi S; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, Pa.
Calabrese L; Department of Rheumatologic and Immunologic Disease, Cleveland Clinic, Cleveland, Ohio.
van Montfrans J; Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands.
Orange JS; Division of Immunology, Allergy, and Rheumatology, Texas Children's Hospital, Houston, Tex. Electronic address: orange@bcm.edu.
Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pa. Electronic address: hakonarson@email.chop.edu.

J Allergy Clin Immunol ; 138(2): 544-550.e4, 2016 08.

Article en En | MEDLINE | ID: mdl-27016798

Asunto(s)

Proteínas Portadoras/genética; Inmunodeficiencia Variable Común/genética; Inmunodeficiencia Variable Común/inmunología; Predisposición Genética a la Enfermedad; Mutación; Proteínas Nucleares/genética; Adolescente; Adulto; Anciano; Subgrupos de Linfocitos B/inmunología; Subgrupos de Linfocitos B/metabolismo; Biomarcadores; Proteínas Portadoras/metabolismo; Diferenciación Celular/genética; Diferenciación Celular/inmunología; Inmunodeficiencia Variable Común/diagnóstico; Proteínas de Unión al ADN; Exoma; Familia; Femenino; Estudios de Asociación Genética; Genotipo; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Isotipos de Inmunoglobulinas/sangre; Isotipos de Inmunoglobulinas/inmunología; Inmunofenotipificación; Masculino; Persona de Mediana Edad; Proteínas Nucleares/metabolismo; Linaje; Fenotipo; Subgrupos de Linfocitos T/inmunología; Subgrupos de Linfocitos T/metabolismo; Factores de Transcripción; Adulto Joven

Palabras clave

Common variable immunodeficiency; IRF2BP2; immunoglobulin; machine learning; primary antibody deficiency

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Proteínas Portadoras / Inmunodeficiencia Variable Común / Predisposición Genética a la Enfermedad / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Allergy Clin Immunol Año: 2016 Tipo del documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google