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

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

Research output: Contribution to journalLetterpeer-review

12 Citations (Scopus)
Original languageEnglish
Pages (from-to)e60-e64
JournalBritish Journal of Haematology
Issue number3
Publication statusPublished - 1 Aug 2019


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

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