Targeted Sequencing Yields High Rate of Pathogenic Variants in Both Single and Multilineage Pediatric Immune Cytopenias
Year: 2026
Type: article
Study design: Observational Study
Abstract: Genetically defined IEI was identified in 7.7% of children with immune cytopenias who underwent genetic testing. The high rate of genetic diagnoses in patients with both single- and multi-lineage immune cytopenias who were tested supports the clinical utility of genetic testing in these patients.
Source: American Journal of Hematology
DOI: 10.1002/ajh.70539
Authors: Emily M. Harris, Thomas Pincez, Kirsty Hillier, Yi‐Lee Ting, Irem Eldem, Paul M. Gallo, Jennifer MacWhirter‐DiRaimo, Hannah Helber, Candelaria O'Farrell, Estelle Lecluze, Laura George, Taylor Olmsted Kim, Rachael F. Grace, Michael E. Scheurer, Rebecca Hale, Kristin A. Shimano, Diane Nugent, Ellis J. Neufeld, Craig D. Platt, Michele P. Lambert, Amanda B. Grimes, Shipra Kaicker
Institutions: Harvard University, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Centre Hospitalier Universitaire Sainte-Justine, CHU Sainte-Justine Research Center, Université de Montréal, NYU Langone Health, New York University, Invitae (United States), Washington University in St. Louis, Children's Hospital Colorado, The Ohio State University, Baylor College of Medicine, Texas Children's Hospital, University of Southern California, Children's Hospital Los Angeles, Emory University, Children's Healthcare of Atlanta, Winship Cancer Institute, Boston Children's Hospital, University of California, San Francisco, UCSF Benioff Children's Hospital, Children's Hospital of Orange County, University of California, Irvine, St. Jude Children's Research Hospital, Children's Hospital of Philadelphia, University of Pennsylvania, Weill Cornell Medicine, Weill Cornell Medical Center
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W7225150217