Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
Oskar SchnappaufQing ZhouNatalia Sampaio MouraAmanda K OmbrelloDrew G MichaelNatalie DeuitchKaryl BarronDeborah L StonePatrycja HoffmannMichael HershfieldCarolyn ApplegateHans T BjornssonDavid B BeckP Dane WitmerNara SobreiraElizabeth WohlerJohn A ChioriniThe American Genome CenterClifton L DalgardNih Intramural Sequencing CenterDaniel L KastnerIvona AksentijevichPublished in: Journal of clinical immunology (2020)
ADA2 pathogenic variants may not be detected by conventional sequencing and genetic testing and may require the incorporation of additional diagnostic methods. A definitive molecular diagnosis is crucial for all family members to make informed treatment decisions.