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
10.3389/fimmu.2023.1156689
Front Immunol
2023 May 3;14:1156689.
autoinflammatory disease dada2 deficiency of adenosine deaminase 2 hypogammaglobulinemia immunoglobulin inborn errors of immunity
CC BY
https://pubmed.ncbi.nlm.nih.gov/37207212/
Agammaglobulinemia / complications Agammaglobulinemia / diagnosis Agammaglobulinemia / genetics Vasculitis / etiology
Agammaglobulinemia / complications Agammaglobulinemia / diagnosis Agammaglobulinemia / genetics Vasculitis / etiology Case Reports Research Support, Non-U.S. Gov't Adenosine Deaminase / genetics Adolescent Adult Child Female Humans Intercellular Signaling Peptides and Proteins Male Adenosine Deaminase Intercellular Signaling Peptides and Proteins deficiency of adenosine deaminase 2
PMC10188974
37207212
Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
2023