Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that
primarily affects lymphocyte development, viability, and function. The ADA deficiency …

The study of primary immunodeficiencies or inborn errors of immunity continues to drive our
knowledge of the function of the human immune system. From the outset, the study of inborn …

Deficiency of adenosine deaminase 2 (DADA2) is an inborn error of immunity caused by
loss-of-function mutations in the adenosine deaminase 2 (ADA2) gene. Clinical …

Systemic autoinflammatory diseases (SAIDs) are disorders of innate immunity, which are
characterized by unprovoked recurrent flares of systemic inflammation often characterized …

Background and purpose Patients with adenosine deaminase 2 (ADA2) deficiency can
present with various neurological manifestations due to vasculopathies and …

Inflammatory diseases are conditions characterized by abnormal and often excessive
immune responses, leading to tissue and organ inflammation. The complexity of these …

Autoinflammatory diseases (AIDs) characterized by recurrent episodes of localized or
systemic inflammation are disorders of the innate immune system. Skin lesions are …

Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic
mutations in adenosine deaminase 2 (ADA2). The varying phenotypes of the disease often …

Autosomal recessive deficiency of adenosine deaminase 2 (DADA2) was described in 2014
as the cause of an autoinflammatory syndrome characterized by vasculitis, manifesting …

Objective Through a case of deficiency of adenosine deaminase 2 (DADA2) to improve
domestic clinicians' understanding of the disease, and to review the literature, promote …