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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Autors principals:	Federica Pulvirenti, Bianca Laura Cinicola, Simona Ferrari, Daniele Guadagnolo, Eleonora Sculco, Martina Capponi, Lorenzo Loffredo, Maddalena Sciannamea, Antonella Insalaco, Isabella Quinti, Fabrizio De Benedetti, Anna Maria Zicari
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2023-05-01
Col·lecció:	Frontiers in Immunology
Matèries:	deficiency of adenosine deaminase 2 autoinflammatory disease hypogammaglobulinemia inborn errors of immunity dada2 immunoglobulin
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fimmu.2023.1156689/full
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