Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia
Tarih
2018Yazar
Aydogmus, Cigdem
Keskindemirci, Gonca
Serwas, Nina K.
Boztug, Kaan
Cipe, Funda Erol
Üst veri
Tüm öğe kaydını gösterÖzet
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.
Koleksiyonlar
- Makale [92796]