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Publicatie
Human ADA2 Deficiency: Ten Years Later
Tijdschriftbijdrage - Tijdschriftartikel
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.
Tijdschrift: Current Allergy and Asthma Reports
ISSN: 1529-7322
Issue: 9
Volume: 24
Pagina's: 477 - 484
Jaar van publicatie:2024
Trefwoorden:Immunologie
Toegankelijkheid:Open