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, vol.38, no.3, pp.273-277, 2018 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 38 Issue: 3
Publication Date: 2018
Doi Number: 10.1007/s10875-018-0487-x
Journal Name: JOURNAL OF CLINICAL IMMUNOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.273-277
Keywords: ADA2, deficiency of adenosine deminase 2, neutropenia, ADENOSINE-DEAMINASE 2, CONGENITAL NEUTROPENIA, PROTEIN, GENE, VASCULOPATHY, PHENOTYPE
Istanbul University Affiliated: Yes

Abstract

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.