Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
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Wolska-Kuśnierz Beata, Gregorek Hanna, Chrzanowska Krystyna, Piątosa Barbara, Pietrucha Barbara, Heropolitańska-Pliszka Edyta, Pac Małgorzata, Klaudel-Dreszler Maja, Kostyuchenko Larysa, Pasic Srdjan, Marodi Laszlo, Belohradsky Bernd H, Čižnár Peter, Shcherbina Anna, Kilic Sara Sebnem, Baumann Ulrich, Seidel Markus G, Gennery Andrew R, Syczewska Małgorzata, Mikołuć Bożena, Kałwak Krzysztof, Styczyński Jan, Pieczonka Anna, Drabko Katarzyna, Wakulińska Anna, Gathmann Benjamin, Albert Michael H, Skarżyńska Urszula, Bernatowska Ewa, Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies
Аннотация
METHODS: The clinical and immunological characteristics of 149 NBS patients registered in the online database of the European Society for Immune Deficiencies were analyzed.
RESULTS: Of the 149 NBS patients, 91 (61%), of median age 14.3 years, remained alive at the time of analysis. These patients were clinically heterogeneous, with variable immune defects, ranging from negligible to severe dysfunction. Humoral deficiencies predisposed NBS patients to recurrent/chronic respiratory tract infections and worsened long-term clinical prognosis. Eighty malignancies, most of lymphoid origin (especially non-Hodgkin's lymphomas), were diagnosed in 42% of patients, with malignancy being the leading cause of death in this cohort. Survival probabilities at 5, 10, 20 and 30 years of age were 95, 85, 50 and 35%, respectively, and were significantly lower in patients with than without malignancies.
CONCLUSIONS: The extremely high incidence of malignancies, mostly non-Hodgkin's lymphomas, was the main risk factor affecting survival probability in NBS patients. Because treatment of NBS is very difficult and frequently unsuccessful, the search for an alternative medical intervention such as hematopoietic stem cell transplantation is of great clinical importance.