Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia

Cipe, Funda; Aydogmus, Cigdem; Serwas, Nina; Keskindemirci, GONCA; Boztug, Kaan

doi:10.1007/s10875-018-0487-x

Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia

Cipe F. E., Aydogmus C., Serwas N. K., Keskindemirci G., Boztug K.

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.38, sa.3, ss.273-277, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 38 Sayı: 3
Basım Tarihi: 2018
Doi Numarası: 10.1007/s10875-018-0487-x
Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.273-277
Anahtar Kelimeler: ADA2, deficiency of adenosine deminase 2, neutropenia, ADENOSINE-DEAMINASE 2, CONGENITAL NEUTROPENIA, PROTEIN, GENE, VASCULOPATHY, PHENOTYPE
İstanbul Üniversitesi Adresli: Evet

Özet

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.