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A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

Abstract Introduction Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease, whose clinical phenotype was expanded since the first cases, originally described as mimicker of polyarteritis nodosa, with immunodeficiency and early-onset stroke. Methods A systematic re...

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Autors principals: Ilaria Maccora, Valerio Maniscalco, Silvia Campani, Simona Carrera, Giulia Abbati, Edoardo Marrani, Maria Vincenza Mastrolia, Gabriele Simonini
Format: Artigo
Idioma:Inglês
Publicat: BMC 2023-05-01
Col·lecció:Orphanet Journal of Rare Diseases
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Accés en línia:https://doi.org/10.1186/s13023-023-02721-6
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