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

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

Rohit R Ghurye  1 , Kruthika Sundaram  1   2 , Frances Smith  1   2 , Barnaby Clark  1   3 , Michael A Simpson  4 , Lynette Fairbanks  5 , Zoe Adhya  1 , Ghulam J Mufti  6 , Judith C W Marsh  6 , Mohammad A A Ibrahim  1
Affiliations
Case Reports

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

Rohit R Ghurye et al. Br J Haematol. 2019 Aug.
No abstract available

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

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