Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2)

Br J Haematol. 2019 Aug;186(3):e60-e64. doi: 10.1111/bjh.15896. Epub 2019 Mar 28.

Rohit R Ghurye¹, Kruthika Sundaram^{1

2}, Frances Smith^{1

2}, Barnaby Clark^{1

3}, Michael A Simpson⁴, Lynette Fairbanks⁵, Zoe Adhya¹, Ghulam J Mufti⁶, Judith C W Marsh⁶, Mohammad A A Ibrahim¹

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 Viapath, King's College Hospital, London, UK.
³ 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.

No abstract available

Keywords: ADA2; bone marrow hypocellularity; c.1057T>C; deficiency of adenosine deaminase 2 (DADA2); neutropenia; p.(Tyr353His).

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