Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.

Tesi, Bianca; Chiang, Samuel C C; El-Ghoneimy, Dalia; Hussein, Ayad Ahmed; Langenskiöld, Cecilia; Wali, Rabia; Fadoo, Zehra; Silva, João Pinho; Lecumberri, Ramón; Unal, Sule; Nordenskjöld, Magnus; Bryceson, Yenan T; Henter, Jan-Inge; Meeths, Marie

Tesi, Bianca; Chiang, Samuel C C; El-Ghoneimy, Dalia; Hussein, Ayad Ahmed; Langenskiöld, Cecilia; Wali, Rabia; Fadoo, Zehra; Silva, João Pinho; Lecumberri, Ramón; Unal, Sule; Nordenskjöld, Magnus; Bryceson, Yenan T; Henter, Jan-Inge; Meeths, Marie.

Afiliação

Tesi B; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
Chiang SC; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
El-Ghoneimy D; Department of Medicine, Center for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Hussein AA; Pediatric Allergy and Immunology Unit, Children's Hospital, Ain Shams University, Cairo, Egypt.
Langenskiöld C; Bone Marrow and Stem Cell Transplantation Program, King Hussein Cancer Center, Amman, Jordan.
Wali R; Department of Women's and Children's Health, Queen Silviás Childrens Hospital, University of Gothenburg, Gothenburg, Sweden.
Fadoo Z; Shaukat Khanum Memorial Cancer Hospital & Research Center, Lahore, Pakistan.
Silva JP; Department of Oncology and Pediatrics, Aga Khan University, Karachi, Pakistan.
Lecumberri R; Institute for Research and Innovation on Health and Center for Predictive and Preventive Genetics of the IBMC-Institute for Cell and Molecular Biology, University of Porto, Portugal.
Unal S; Hematology Service, University Clinic of Navarra, Pamplona, Spain.
Nordenskjöld M; Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey.
Bryceson YT; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
Henter JI; Department of Medicine, Center for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.
Meeths M; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.

Pediatr Blood Cancer ; 62(12): 2094-100, 2015 Dec.

Article em En | MEDLINE | ID: mdl-26184781

Assuntos

Doença de Hodgkin/genética; Lúpus Eritematoso Sistêmico/genética; Linfo-Histiocitose Hemofagocítica/genética; Mutação de Sentido Incorreto; Doenças do Sistema Nervoso/genética; Perforina/genética; Adolescente; Adulto; Feminino; Humanos; Masculino; Estudos Retrospectivos

Palavras-chave

hemophagocytic lymphohistiocytosis; lymphocyte cytotoxicity; lymphoma; missense mutation; perforin

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Hodgkin / Mutação de Sentido Incorreto / Linfo-Histiocitose Hemofagocítica / Perforina / Lúpus Eritematoso Sistêmico / Doenças do Sistema Nervoso Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Pediatr Blood Cancer Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Suécia País de publicação: Estados Unidos

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