Marjon Wouters, Lisa Ehlers, Mariia Dzhus, Verena Kienapfel, Giorgia Bucciol, Selket Delafontaine, Anneleen Hombrouck, Bethany Pillay, Leen Moens, Isabelle Meyts
{"title":"人类 ADA2 缺乏症：十年之后","authors":"Marjon Wouters, Lisa Ehlers, Mariia Dzhus, Verena Kienapfel, Giorgia Bucciol, Selket Delafontaine, Anneleen Hombrouck, Bethany Pillay, Leen Moens, Isabelle Meyts","doi":"10.1007/s11882-024-01163-9","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>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.</p>","PeriodicalId":55198,"journal":{"name":"Current Allergy and Asthma Reports","volume":" ","pages":"477-484"},"PeriodicalIF":5.4000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11364588/pdf/","citationCount":"0","resultStr":"{\"title\":\"Human ADA2 Deficiency: Ten Years Later.\",\"authors\":\"Marjon Wouters, Lisa Ehlers, Mariia Dzhus, Verena Kienapfel, Giorgia Bucciol, Selket Delafontaine, Anneleen Hombrouck, Bethany Pillay, Leen Moens, Isabelle Meyts\",\"doi\":\"10.1007/s11882-024-01163-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose of review: </strong>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.</p>\",\"PeriodicalId\":55198,\"journal\":{\"name\":\"Current Allergy and Asthma Reports\",\"volume\":\" \",\"pages\":\"477-484\"},\"PeriodicalIF\":5.4000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11364588/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Allergy and Asthma Reports\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s11882-024-01163-9\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/7/6 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"ALLERGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Allergy and Asthma Reports","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s11882-024-01163-9","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/6 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"ALLERGY","Score":null,"Total":0}
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.
期刊介绍：
The aim of Current Allergy and Asthma Reports is to systematically provide the views of highly selected experts on current advances in the fields of allergy and asthma and highlight the most important papers recently published. All reviews are intended to facilitate the understanding of new advances in science for better diagnosis, treatment, and prevention of allergy and asthma.
We accomplish this aim by appointing international experts in major subject areas across the discipline to review select topics emphasizing recent developments and highlighting important new papers and emerging concepts. We also provide commentaries from well-known figures in the field, and an Editorial Board of internationally diverse members suggests topics of special interest to their country/region and ensures that topics are current and include emerging research. Over a one- to two-year period, readers are updated on all the major advances in allergy and asthma.
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