Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.

Roy, Noémi B A; Zaal, Ahmad I; Hall, Georgina; Wilkinson, Nick; Proven, Melanie; McGowan, Simon; Hipkiss, Ria; Buckle, Veronica; Kavirayani, Akhila; Babbs, Christian

Roy, Noémi B A; Zaal, Ahmad I; Hall, Georgina; Wilkinson, Nick; Proven, Melanie; McGowan, Simon; Hipkiss, Ria; Buckle, Veronica; Kavirayani, Akhila; Babbs, Christian.

Afiliación

Roy NBA; Department of Haematology, Oxford University Hospitals NHS Foundation Trust.
Zaal AI; Oxford BRC Haematology Theme, University of Oxford.
Hall G; Paediatric Rheumatology, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford.
Wilkinson N; Children's Hospital, Damascus University, Damascus, Syria.
Proven M; Paediatric Haematology/Oncology Unit, Oxford University Hospitals, Oxford.
McGowan S; Paediatric Rheumatology, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London.
Hipkiss R; Molecular Haematology Laboratory, Oxford University Hospitals NHS Foundation Trust.
Buckle V; Computational Biology Research Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford.
Kavirayani A; Molecular Haematology Laboratory, Oxford University Hospitals NHS Foundation Trust.
Babbs C; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

Rheumatology (Oxford) ; 59(2): 448-451, 2020 02 01.

Article en En | MEDLINE | ID: mdl-31377798

Asunto(s)

Anemia Diseritropoyética Congénita/genética; Difosfonatos/uso terapéutico; Síndromes de Inmunodeficiencia/genética; Proteína Antagonista del Receptor de Interleucina 1/uso terapéutico; Mutación; Proteínas Nucleares/genética; Osteomielitis/genética; Anemia Diseritropoyética Congénita/tratamiento farmacológico; Análisis Mutacional de ADN; Humanos; Síndromes de Inmunodeficiencia/tratamiento farmacológico; Lactante; Osteomielitis/tratamiento farmacológico

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteomielitis / Proteínas Nucleares / Difosfonatos / Proteína Antagonista del Receptor de Interleucina 1 / Síndromes de Inmunodeficiencia / Anemia Diseritropoyética Congénita / Mutación Límite: Humans / Infant Idioma: En Revista: Rheumatology (Oxford) Asunto de la revista: REUMATOLOGIA Año: 2020 Tipo del documento: Article

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