Somatic Genetic Rescue of Immunodeficiency in WHIM Syndrome
A patient with WHIM syndrome, caused by CXCR4 chemokine receptor hyperactivity, had sustained remission after splenic rupture. A somatic mutation produced CXCR4 haploinsufficiency, suggesting allele silencing as a therapeutic strategy.
Authors
- Magdalena Walkiewicz-Yvon
- Elena Cho
- Stephen M. Hewitt (ORCID: https://orcid.org/0000-0001-8283-1788)
- Abigail Salancy
- David H. McDermott (ORCID: https://orcid.org/0000-0001-6978-0867)
- Philip M. Murphy (ORCID: https://orcid.org/0000-0002-1080-8201)
- Bryce A. Seifert (ORCID: https://orcid.org/0000-0001-7970-3611)
- Sergio M. Pontejo (ORCID: https://orcid.org/0000-0002-7756-9831)
- Rafael Calderon-Perez
- Daniel Velez
- Priscilla E. Quackenbush
- Rachel G. Moses
- Ji-Liang Gao
- David Morris
- Douglas B. Kuhns
- Zach Ormiston
Institutions
- Dayton Children's Hospital (US)
- Frederick National Laboratory for Cancer Research (US)
- National Institute of Allergy and Infectious Diseases (US)
- National Cancer Institute (US)
Publication Details
- Journal
- New England Journal of Medicine
- Published
- 2026-07-01
- DOI
- https://doi.org/10.1056/nejmc2602051
- Primary Topic
- Chemokine receptors and signaling
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute of Allergy and Infectious Diseases