1. Human ADA2 Deficiency: Ten Years Later.
- Author
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Wouters M, Ehlers L, Dzhus M, Kienapfel V, Bucciol G, Delafontaine S, Hombrouck A, Pillay B, Moens L, and Meyts I
- Subjects
- Humans, Severe Combined Immunodeficiency genetics, Severe Combined Immunodeficiency immunology, Severe Combined Immunodeficiency therapy, Agammaglobulinemia genetics, Agammaglobulinemia immunology, Agammaglobulinemia therapy, Hereditary Autoinflammatory Diseases, Adenosine Deaminase deficiency, Adenosine Deaminase genetics, Intercellular Signaling Peptides and Proteins deficiency, Intercellular Signaling Peptides and Proteins metabolism, Intercellular Signaling Peptides and Proteins genetics
- Abstract
Purpose of Review: In this review, an update is provided on the current knowledge and pending questions about human adenosine deaminase type 2 deficiency. Patients have vasculitis, immunodeficiency and some have bone marrow failure. Although the condition was described ten years ago, the pathophysiology is incompletely understood RECENT FINDINGS: Endothelial instability due to increased proinflammatory macrophage development is key to the pathophysiology. However, the physiological role of ADA2 is a topic of debate as it is hypothesized that ADA2 fulfils an intracellular role. Increasing our knowledge is urgently needed to design better treatments for the bone marrow failure. Indeed, TNFi treatment has been successful in treating DADA2, except for the bone marrow failure. Major advances have been made in our understanding of DADA2. More research is needed into the physiological role of ADA2., (© 2024. The Author(s).)
- Published
- 2024
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