Deficiency of Adenosine Deaminase 2 Masquerading as Behcet's Disease: Phenotypic Mimicry with HLA-B*51 Positivity.

ABSTRACT:

Purpose

Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease resulting from biallelic loss-of-function mutations in ADA2 gene. It has variable clinical manifestations, some of which can mimic Behçet's disease (BD). Herein, we present a family of three siblings diagnosed with DADA2, two of whom were initially misdiagnosed as BD based on clinical phenotype including positive human leukocyte antigen B51 (HLA-B*51).

Methods

Gene mutational analysis was performed by whole exome (WES) and Sanger sequencing.

Results

We reported two siblings presented with recurrent oral ulcers, fever, arthritis, and skin lesions, alongside elevated inflammatory markers and HLA-B*51 positivity, leading to an initial misdiagnosis of BD. Genetic testing later

SUBMITTER: Almojali A 

PROVIDER: S-EPMC11913947 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature