Common Variable Immunodeficiency in a Carrier of the ADA2 R169Q Variant: Coincidence or Causality?

J Clin Immunol. 2022 Jul;42(5):959-961. doi: 10.1007/s10875-022-01271-z. Epub 2022 Apr 21.

Authors

Laura Moi¹, Caroline Schnider², Orbicia Riccio³, Michael S Hershfield⁴, Fabio Candotti³

Affiliations

¹ Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. laura.moi@chuv.ch.
² Pediatric Immuno-Rheumatology of Western Switzerland, Department Women-Mother-Child, Lausanne University Hospital, Lausanne, Switzerland.
³ Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
⁴ Duke University Medical Center, Durham, NC, USA.

PMID: 35449494
DOI: 10.1007/s10875-022-01271-z

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Deaminase / genetics*
Common Variable Immunodeficiency* / diagnosis
Common Variable Immunodeficiency* / genetics
Humans
Intercellular Signaling Peptides and Proteins / genetics*
Phenotype

Substances

Intercellular Signaling Peptides and Proteins
ADA2 protein, human
Adenosine Deaminase

Grants and funding

310030_197695/Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung