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

Atıf İçin Kopyala

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

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.35, sa.6, ss.538-549, 2015 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 35 Sayı: 6
Basım Tarihi: 2015
Doi Numarası: 10.1007/s10875-015-0186-9
Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.538-549
Anahtar Kelimeler: Nijmegen breakage syndrome, primary immunodeficiencies, chromosomal instability, hematopoietic stem cell transplantation, non-Hodgkin's lymphoma, NBS, TRANSPLANTATION, ABNORMALITIES, MUTATION, CHILDREN, PROTEIN
Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.