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Severe Pneumocystis jirovecii Pneumonia Revealing an Underlying Telomere Maintenance Defect: A Clinical Case Study

2026-04-02

Abstract excerpt

Pneumocystis jirovecii pneumonia (PJP) is typically associated with immunocompromised states, yet its occurrence as the initial manifestation of an underlying genetic disorder remains uncommon. This case study describes a patient presenting with severe PJP who was subsequently diagnosed with a telomere maintenance defect. The patient exhibited progressive respiratory distress, hypoxemia, and diffuse interstitial i...

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Literature Corpus work
ffa5cf28-fc68-5490-bb6e-bd12d4f0c70a
DOI
10.14293/pr2199.003283.v1
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