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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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Rockefeller University Press
2026-05-01
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| Edice: | Journal of Human Immunity |
| On-line přístup: | https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.129/282020/Clinical-Implications-of-Concurrent-Heterozygous |
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