Telomere Biology Disorders Presenting With Opportunistic Pulmonary Infections in Adults: Report of Two Cases and Literature Review

Telomere biology disorders (TBDs) are a group of inherited or acquired conditions characterized by accelerated telomere shortening, leading to impaired cellular renewal and multisystem involvement. Although classically associated with bone marrow failure, mucocutaneous abnormalities, and pulmonary fibrosis, their presentation with opportunistic pulmonary infections in adults remains underrecognized. We report two adult cases of TBDs presenting primarily with recurrent and severe opportunistic respiratory infections. Both patients exhibited progressive cytopenias, radiologic evidence of interstitial lung disease, and poor response to conventional antimicrobial therapy. Advanced diagnostic evaluation, including telomere length assessment and genetic analysis, confirmed underlying telomere dysfunction. A review of the existing literature highlights that immunologic compromise in TBDs predisposes affected individuals to atypical and opportunistic infections, often delaying accurate diagnosis. Early recognition of this clinical association is critical for guiding appropriate management, including tailored antimicrobial therapy, hematologic support, and consideration of hematopoietic stem cell transplantation. These cases underscore the importance of maintaining a high index of suspicion for TBDs in adults with unexplained cytopenias and recurrent pulmonary infections.