[Adenosine deaminase 2 deficiency: a disease with multiple presentations].

Area of Science:

• Genetics
• Immunology
• Neurology

Background:

• Adenosine deaminase 2 deficiency (DADA2) is a rare genetic auto-inflammatory disorder.
• It presents with vasculitis, immunodeficiency, and cytopenias, often in childhood but with potential adult onset.
• Neurological involvement, such as stroke, and skin vasculitis are common manifestations.

Purpose of the Study:

• To summarize the key aspects of DADA2, including its presentation, diagnosis, and management.
• To highlight the importance of early diagnosis and treatment for preventing severe complications.
• To provide an overview of current therapeutic strategies for DADA2.

Main Methods:

• Diagnosis relies on measuring adenosine deaminase 2 (ADA2) enzymatic activity.
• Genetic testing to identify mutations in the ADA2 gene confirms the diagnosis.
• Clinical presentation and treatment outcomes are reviewed.

Main Results:

• DADA2 is characterized by inflammatory manifestations, primarily vasculitis affecting the skin and nervous system.
• Associated symptoms include immunodeficiency and various cytopenias.
• Treatment strategies vary based on the primary phenotype.

Conclusions:

• Early administration of anti-tumor necrosis factor-alpha (anti-TNFa) therapy is recommended for the inflammatory phenotype to prevent neurological damage.
• Hematopoietic stem cell transplantation is the only curative option for patients with severe hematological involvement.
• Prompt diagnosis and tailored treatment are essential for managing DADA2 and improving patient outcomes.