In:
Immunity, Inflammation and Disease, Wiley, Vol. 11, No. 8 ( 2023-08)
Abstract:
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss‐of‐function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory, and hematologic; however, most patients presented with significant overlap between these three phenotype groups. Case Presentation We present a case of DADA2 deficiency with disease onset at 3 years old, not recognized till the age of 18 with severe gastrointestinal vasculitis and recurrent episodes of neutropenia associated with a new CECR1 mutation.
Type of Medium:
Online Resource
ISSN:
2050-4527
,
2050-4527
Language:
English
Publisher:
Wiley
Publication Date:
2023
detail.hit.zdb_id:
2740382-8
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