Deficiency of Human Adenosine Deaminase Type 2 – A Diagnostic Conundrum for the Hematologist

Deficiency of adenosine deaminase type 2 (DADA2) was first described in 2014 as a monogenic cause of polyartertitis nodosa (PAN), early onset lacunar stroke and livedo reticularis. The clinical phenotype of DADA2 is, however, very broad and may involve several organ systems. Apart from vasculitis, c...

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Главные авторы: Rakesh Kumar Pilania, Aaqib Zaffar Banday, Saniya Sharma, Rajni Kumrah, Vibhu Joshi, Sathish Loganathan, Manpreet Dhaliwal, Ankur Kumar Jindal, Pandiarajan Vignesh, Deepti Suri, Amit Rawat, Surjit Singh
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2022-05-01
Серии:Frontiers in Immunology
Предметы:
deficiency of human adenosine deaminase type 2
haematological abnormalities
inborn errors of immunity (IEIs)
lymphoproliferation
bone marrow failure syndromes
cytopenia
Online-ссылка:https://www.frontiersin.org/articles/10.3389/fimmu.2022.869570/full
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