Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia
Date
2018Author
Aydogmus, Cigdem
Keskindemirci, Gonca
Serwas, Nina K.
Boztug, Kaan
Cipe, Funda Erol
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Adenosine deaminase 2 (ADA2) have been reported to cause vasculitic diseases and immunodeficiency recently. Patients present with stroke episodes and rashes mimicking polyarteritis nodosa (PAN). We report a patient who has been followed up with severe neutropenia and found an unexpectedly revealed novel mutation in CECR1 affecting ADA2.
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