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

Wolska-Kusnierz, Beata; Gregorek, Hanna; Chrzanowska, Krystyna; Piatosa, Barbara; Pietrucha, Barbara; Heropolitanska-Pliszka, Edyta; Pac, Magorzata; Klaudel-Dreszler, Maja; Kostyuchenko, Larysa; Pasic, Srdjan; Marodi, Laszlo; Belohradsky, Bernd; Ciznar, Peter; Shcherbina, Anna; Kilic, SARA; Baumann, Ulrich; Seidel, Markus; Gennery, Andrew; Syczewska, Magorzata; Mikoluc, Bozena; Kalwak, Krzysztof; Styczynski, Jan; Pieczonka, Anna; Drabko, Katarzyna; Wakulinska, Anna; Gathmann, Benjamin; Albert, Michael; Skarzynska, Urszula; Bernatowska, Ewa

doi:10.1007/s10875-015-0186-9

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

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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 (SCI-Expanded)

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 (SCI-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
Bursa Uludag University Affiliated: Yes

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.