Mohammad Khalid Alnoubani
Amman, Jordan

Background(s): Deficiency of adenosine deaminase 2 (DADA2), is a rare autosomal recessive autoinflammatory disease caused by a mutation in ADA2 gene, and characterized by variable clinical manifestations of bone marrow failure, systemic vasculitis and immunodeficiency. We describe the phenotype, genotype and treatment modalities of Jordanian children’s in a single tertiary hospital.

Method(s): A retrospective analysis of patients diagnosed with (DADA2) at the rheumatology clinic in Queen Rania Children’s hospital in Amman, Jordan

Result(s): Six children with DADA2 were included between March 2022 and March 2024, all patients were diagnosed using whole-exome sequencing. Clinical manifestations include fever and cutaneous manifestations in all patients, hematological manifestations (66.6%) , immunodeficiency (33%) and  systemic vasculitis (16%).

Therapeutic options include corticosteroids, granulocyte colony-stimulating factor (GCSF), intravenous immunoglobulin (IVIG), immunosuppressants and biological therapy.

Conclusion(s): This report includes the first case series of DADA2 patients from Jordan. Due to variable age at presentation, phenotype and high morbidity and mortality an early diagnosis and treatment are mandatory.