Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China.

ABSTRACT:

Background

Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease caused by mutations in the ADA2 gene. Few Chinese cases have been reported. We describe and compare the clinical features, genotypes, and treatments of Chinese DADA2 patients and non-Chinese patients.

Methods

Primary immunodeficiency disease panel or whole-exome sequencing was performed for suspected cases, and assays for adenosine deaminase 2 (ADA2) enzyme activity were also carried out for the patients and their parents. Case reports of Chinese and non-Chinese patients with DADA2 were searched in PubMed and Chinese national databases.

Results

Seven unrelated children from China with DADA2 were included in our study. Five were identified at Peking Union Medical College Hospital,

SUBMITTER: Wang W 

PROVIDER: S-EPMC7986504 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature