A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review.

ABSTRACT:

Introduction

Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease, whose clinical phenotype was expanded since the first cases, originally described as mimicker of polyarteritis nodosa, with immunodeficiency and early-onset stroke.

Methods

A systematic review according to PRISMA approach, including all articles published before the 31st of August 2021 in Pubmed and EMBASE database was performed.

Results

The search identified 90 publications describing 378 unique patients (55.8% male). To date 95unique mutations have been reported. The mean age at disease onset was 92.15 months (range 0-720 months), 32 (8.5%) showed an onset of the first signs/symptoms after 18 years old and 96 (25.4%) after 10 years old. The most frequent clinical c

SUBMITTER: Maccora I 

PROVIDER: S-EPMC10183141 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature