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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Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2022-05-01
Collection:Frontiers in Immunology
Sujets:
deficiency of human adenosine deaminase type 2
haematological abnormalities
inborn errors of immunity (IEIs)
lymphoproliferation
bone marrow failure syndromes
cytopenia
Accès en ligne:https://www.frontiersin.org/articles/10.3389/fimmu.2022.869570/full
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