Targeted Sequencing Yields High Rate of Pathogenic Variants in Both Single and Multilineage Pediatric Immune Cytopenias

Emily M. Harris; Thomas Pincez; Kirsty Hillier; Yi-Lee Ting; İrem Eldem; Paul M. Gallo; Jennifer MacWhirter - DiRaimo; Hannah L. Helber; Candelaria O’Farrell; Estelle Lecluze; Laura J. George; Taylor Olmsted; Rachael F. Grace; Michael E. Scheurer; Rebecca C. Hale; Kristin Ammon Shimano; Diane Jean Nugent; Ellis J. Neufeld; Craig D. Platt; Michele P. Lambert; Amanda Bell Grimes; Shipra M. Kaicker

doi:10.1002/ajh.70539

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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.

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Harris et al. (2026) studied this question.

synapsesocial.com/papers/6aec1c7a0f6a78723039f274 https://doi.org/10.1002/ajh.70539

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Targeted Sequencing Yields High Rate of Pathogenic Variants in Both Single and Multilineage Pediatric Immune Cytopenias

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Targeted Sequencing Yields High Rate of Pathogenic Variants in Both Single and Multilineage Pediatric Immune Cytopenias

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Abstract

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