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Clinical Implications of Concurrent Heterozygous LRBA and RTEL1 Variants: A Case Study

We present the case of a 43-year-old male who presented to pulmonology with 3 years of chronic cough and recurrent sinopulmonary infections. He was diagnosed with bronchiectasis and found to have mild thrombocytopenia and agammaglobulinemia (IgG 44 mg/dL, IgA and IgM undetectable). Further immunolog...

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Библиографические подробности
Главные авторы: Brinda Prasanna Kumar, Christopher Reilly, Duane Wesemann, Kenneth Green, Gaspar Pacheco Ruidiaz, Erin Reigh
Формат: Artigo
Язык:Inglês
Опубликовано: Rockefeller University Press 2026-05-01
Серии:Journal of Human Immunity
Online-ссылка:https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.129/282020/Clinical-Implications-of-Concurrent-Heterozygous
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