Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Italy.
Institute for Molecular Medicine A. Nocivelli, Department of Pathology, Laboratory of Genetic Disorders of Childhood, Department of Molecular and Translational Medicine, University of Brescia, Spedali Civili di Brescia, Italy.
Clin Immunol. 2019 Aug;205:153-155. doi: 10.1016/j.clim.2018.11.014. Epub 2018 Nov 28.
This study provides evidence for a novel role for NFKB2 in human B cell development in the bone marrow and in the periphery, leading to progressive peripheral B cell deficiency not always combined with autoimmune phenomena, broadening thus the clinical spectrum of NFKB2 mutated CVID disease and implying an essential role for NFKB2 in early human B cell development.
本研究为 NFKB2 在人类骨髓和外周血 B 细胞发育中的新作用提供了证据，导致进行性外周 B 细胞缺陷，并不总是伴有自身免疫现象，从而拓宽了 NFKB2 突变性 CVID 疾病的临床谱，并暗示 NFKB2 在人类早期 B 细胞发育中起关键作用。
