Extract Dyskeratosis congenita is a rare syndrome diagnosed by the mucocutaneous triad of oral leukoplakia, nail dysplasia and abnormal skin pigmentation or by the presence of two components of the triad and bone marrow failure 1. X-linked dyskeratosis congenita was the first telomere biology disorder (TBD) dissected at the genetic level with the identification of pathogenic variants in DKC1 2. Subsequently TERT and TERC, two other telomere related genes (TRGs), were implicated in TBD and familial pulmonary fibrosis (PF) 3. Since then more than 20 TRGs have been associated with TBD including familial PF 4. Pathogenic variants in TRGs disrupt telomere homeostasis, contributing to bone marrow failure, liver and lung disease, and other conditions associated with TBD 4. Among patients with PF, a personal or family history of hematologic or hepatic conditions suggestive of TBD has been linked to a higher prevalence of pathogenic variants in TRGs compared to PF patients without such extrapulmonary features 5. Pathogenic variants in TRG have been associated with a worse prognosis in PF and may influence therapeutic decision-making, particularly in the context of lung transplantation 6. Patients carrying TRG pathogenic variants are at increased risk of hematological complications and infections, including CMV, following transplantation, especially when exposed to immunosuppressive and cytotoxic therapies 7.
Borie et al. (Thu,) studied this question.