Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?

Deficiency of adenosine deaminase 2 (DADA2) is a rare systemic autoinflammatory disease, typically with autosomal recessive inheritance, usually caused by biallelic loss of function mutations in the ADA2 gene. The phenotypic spectrum is broad, generally including fever, early-onset vasculitis, strok...

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Detalles Bibliográficos
Autores principales: Pulvirenti, Federica, Cinicola, Bianca Laura, Ferrari, Simona, Guadagnolo, Daniele, Sculco, Eleonora, Capponi, Martina, Loffredo, Lorenzo, Sciannamea, Maddalena, Insalaco, Antonella, Quinti, Isabella, De Benedetti, Fabrizio, Zicari, Anna Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188974/
https://www.ncbi.nlm.nih.gov/pubmed/37207212
http://dx.doi.org/10.3389/fimmu.2023.1156689

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