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Novel ADA2 mutation presenting with neutropenia,lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2) |
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| Authors: | Rohit R Ghurye Kruthika Sundaram Frances Smith Barnaby Clark Michael A Simpson Lynette Fairbanks Zoe Adhya Ghulam J Mufti Judith C W Marsh Mohammad A A Ibrahim |
| Institution: | 1. 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;2. 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
Viapath, King's College Hospital, London, UK;3. 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 Precision Medicine, Kings College Hospital, London, UK;4. Division of Genetics and Molecular Medicine, King's College London, London, UK;5. Viapath, St Thomas's Hospital, London, UK;6. Department of Haematological Medicine, School of Cancer and Pharmaceutical Sciences, Faculty of Life Sciences and Medicine, King's College London, King's Health Partners, King's College Hospital NHS Foundation Trust, London, UK |
| Abstract: | |
| Keywords: | deficiency of adenosine deaminase 2 (DADA2) ADA2 c 1057T>C p (Tyr353His) neutropenia bone marrow hypocellularity |