학술논문
Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.
Document Type
Article
Author
Vakkilainen, Svetlana; Ahonen, Kira; Marsh, Rebecca; Secord, Elizabeth; Puck, Jennifer; Pozos, Tamara; Seroogy, Christine M.; Sullivan, Kathleen E.; Walkovich, Kelly; Hartog, Nicholas L.; Lugar, Patricia; Herget, Theresia; Garcia-Prat, Marina; Martin-Nalda, Andrea; Ciznar, Peter; Edgar, John David; Candotti, Fabio; Hellige, Antje; Kindle, Gerhard; Dabrowska-Leonik, Nel
Source
Subject
*SEVERE combined immunodeficiency
*RUBELLA
*HERPES simplex
MORTALITY risk factors
*
*
Language
ISSN
0271-9142
Abstract
This study examines the clinical features and risk factors associated with early mortality in patients with cartilage-hair hypoplasia (CHH), a rare genetic disorder. The study compares data from three international registries and finds that uncontrolled Epstein-Barr virus (EBV) infection is the only factor significantly correlated with early mortality. The study also notes that allogeneic hematopoietic stem cell transplantation (HSCT) was more common in the USIDNET registry, and that the median age at latest follow-up was shortest in the USIDNET cohort. The study concludes that screening for EBV infection and early management of uncontrolled EBV proliferation should be considered in CHH patients. [Extracted from the article]