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Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2).
Ghurye, Rohit R; Sundaram, Kruthika; Smith, Frances; Clark, Barnaby; Simpson, Michael A; Fairbanks, Lynette; Adhya, Zoe; Mufti, Ghulam J; Marsh, Judith C W; Ibrahim, Mohammad A A.
Afiliação
  • Ghurye RR; Department of Immunological Medicine, School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, School of medicine, King's College London, King's Health Partners, King's College Hospital NHS Foundation Trust, London, UK.
  • Sundaram K; Department of Immunological Medicine, School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, School of medicine, King's College London, King's Health Partners, King's College Hospital NHS Foundation Trust, London, UK.
  • Smith F; Viapath, King's College Hospital, London, UK.
  • Clark B; Department of Immunological Medicine, School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, School of medicine, King's College London, King's Health Partners, King's College Hospital NHS Foundation Trust, London, UK.
  • Simpson MA; Viapath, King's College Hospital, London, UK.
  • Fairbanks L; Department of Immunological Medicine, School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, School of medicine, King's College London, King's Health Partners, King's College Hospital NHS Foundation Trust, London, UK.
  • Adhya Z; Precision Medicine, Kings College Hospital, London, UK.
  • Mufti GJ; Division of Genetics and Molecular Medicine, King's College London, London, UK.
  • Marsh JCW; Viapath, St Thomas's Hospital, London, UK.
  • Ibrahim MAA; Department of Immunological Medicine, School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, School of medicine, King's College London, King's Health Partners, King's College Hospital NHS Foundation Trust, London, UK.
Br J Haematol ; 186(3): e60-e64, 2019 08.
Article em En | MEDLINE | ID: mdl-30924144
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Adenosina Desaminase / Peptídeos e Proteínas de Sinalização Intercelular / Transtornos da Insuficiência da Medula Óssea / Linfopenia / Mutação / Neutropenia Limite: Adult / Female / Humans / Middle aged Idioma: En Revista: Br J Haematol Ano de publicação: 2019 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Adenosina Desaminase / Peptídeos e Proteínas de Sinalização Intercelular / Transtornos da Insuficiência da Medula Óssea / Linfopenia / Mutação / Neutropenia Limite: Adult / Female / Humans / Middle aged Idioma: En Revista: Br J Haematol Ano de publicação: 2019 Tipo de documento: Article