Article
Clinical and molecular features of immunodeficiency in patients with telomere biology disorders.
Blood - 4 Sept 2025
Bazzo Catto Luiz Fernando, Aggarwal Nidhi, Shalhoub Ruba, Ma Xiaoyang, Darden Ivana, Machado Tania, Zhang Yue, Redekar Neelam R, Thongon Natthakan, Colla Simona, Aubert Geraldine, Dunbar Cynthia E, Wu Colin O, Young Neal S, Patel Bhavisha A, Gutierrez-Rodrigues Fernanda, Groarke Emma M
Abstract excerpt
ABSTRACT: Immunodeficiency in telomere biology disorders (TBDs) has been described in pediatric patients with severe phenotypes, but is less characterized within the broader TBD spectrum. We collected complete blood counts, lymphocyte subsets, and infection history from 88 consecutive patients with TBD with a median age of 38 years (range, 6-76). Most patients were >18 years old (80/88; 90%) and harbored either a...
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