Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis


Wolska-Kusnierz B., Gregorek H., Chrzanowska K., Piatosa B., Pietrucha B., Heropolitanska-Pliszka E., ...More

JOURNAL OF CLINICAL IMMUNOLOGY, vol.35, no.6, pp.538-549, 2015 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 6
  • Publication Date: 2015
  • Doi Number: 10.1007/s10875-015-0186-9
  • Journal Name: JOURNAL OF CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.538-549
  • Keywords: Nijmegen breakage syndrome, primary immunodeficiencies, chromosomal instability, hematopoietic stem cell transplantation, non-Hodgkin's lymphoma, NBS, TRANSPLANTATION, ABNORMALITIES, MUTATION, CHILDREN, PROTEIN

Abstract

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.