JOURNAL OF CLINICAL IMMUNOLOGY, vol.35, no.6, pp.538-549, 2015 (Peer-Reviewed Journal)
Article / Article
JOURNAL OF CLINICAL IMMUNOLOGY
Science Citation Index Expanded, Scopus
Nijmegen breakage syndrome, primary immunodeficiencies, chromosomal instability, hematopoietic stem cell transplantation, non-Hodgkin's lymphoma, NBS, TRANSPLANTATION, ABNORMALITIES, MUTATION, CHILDREN, PROTEIN
Purpose Nijmegen Breakage Syndrome (NBS) is a rare inherited condition, characterized by microcephaly, chromosomal instability, immunodeficiency, and predisposition to malignancy. This retrospective study, characterizing the clinical and immunological status of patients with NBS at time of diagnosis, was designed to assess whether any parameters were useful in disease prognosis, and could help determine patients qualified for hematopoietic stem cell transplantation.