Targeted Sequencing Yields High Rate of Pathogenic Variants in Both Single and Multilineage Pediatric Immune Cytopenias
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.
Authors
- Michael E. Scheurer (ORCID: https://orcid.org/0000-0002-8379-6088)
- Ellis J. Neufeld (ORCID: https://orcid.org/0000-0001-8092-6281)
- Diane Jean Nugent (ORCID: https://orcid.org/0000-0002-1109-0879)
- Laura J. George (ORCID: https://orcid.org/0000-0002-7863-6768)
- Rachael F. Grace (ORCID: https://orcid.org/0000-0001-7302-0449)
- Hannah L. Helber (ORCID: https://orcid.org/0000-0003-0789-7917)
- Michele P. Lambert (ORCID: https://orcid.org/0000-0003-0439-402X)
- Jennifer MacWhirter - DiRaimo (ORCID: https://orcid.org/0000-0001-7033-1647)
- İrem Eldem (ORCID: https://orcid.org/0000-0001-9930-7990)
- Paul M. Gallo (ORCID: https://orcid.org/0000-0002-8261-9995)
- Emily M. Harris (ORCID: https://orcid.org/0000-0001-8583-6939)
- Rebecca C. Hale
- Estelle Lecluze (ORCID: https://orcid.org/0000-0002-2940-8339)
- Candelaria O’Farrell (ORCID: https://orcid.org/0009-0003-6433-0236)
- Craig D. Platt (ORCID: https://orcid.org/0000-0002-1901-4563)
- Thomas Pincez (ORCID: https://orcid.org/0000-0002-9412-333X)
- Kristin Ammon Shimano (ORCID: https://orcid.org/0000-0001-8371-1040)
- Shipra M. Kaicker (ORCID: https://orcid.org/0000-0002-3224-5921)
- Kirsty Hillier (ORCID: https://orcid.org/0000-0001-7080-2293)
- Amanda Bell Grimes (ORCID: https://orcid.org/0000-0003-2842-9266)
- Yi-Lee Ting (ORCID: https://orcid.org/0009-0003-8353-6707)
- Taylor Olmsted (ORCID: https://orcid.org/0000-0002-2875-6948)
Institutions
- University of Southern California (US)
- Boston Children's Hospital (US)
- Children's Hospital of Orange County (US)
- St. Jude Children's Research Hospital (US)
- Children's Hospital of Philadelphia (US)
- Children's Hospital of Los Angeles (US)
- Harvard University (US)
- Emory University (US)
- University of California, San Francisco (US)
- Baylor College of Medicine (US)
- Washington University in St. Louis (US)
- Cornell University (US)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Genome Canada (CA)
- NYU Langone Health (US)
- Children's Hospital Colorado (US)
- Presbyterian Hospital (US)
- UCSF Benioff Children's Hospital (US)
- Children's Healthcare of Atlanta (US)
- Texas Children's Hospital (US)
- Invitae (United States) (US)
- Dana-Farber/Boston Children's Cancer and Blood Disorders Center (US)
- Winship Cancer Institute (US)
- CHU Sainte-Justine Research Center (CA)
- The Ohio State University (US)
- New York University (US)
- Université de Montréal (CA)
- University of Pennsylvania (US)
Publication Details
- Journal
- American Journal of Hematology
- Published
- 2026-11-02
- DOI
- https://doi.org/10.1002/ajh.70539
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00