Immunogenetic Applied to Cells Therapy Research Unit, Immuno-Haematology and HLA-Typing Department, National Blood Transfusion Centre of Tunis, Tunis, Tunisia.
Department of Haematology, National Bone Marrow Transplantation Centre of Tunis, 1006 Tunis, Tunisia.
Hum Immunol. 2019 Mar;80(3):163-168. doi: 10.1016/j.humimm.2018.12.005. Epub 2018 Dec 12.
Bronchiolitis obliterans (BO) is a serious lung complication that can develop after allogenic stem cell transplantation. It has been suggested that single nucleotide polymorphisms (SNPs) that affect the NOD2/CARD15 gene impair its function and result in an uncontrolled innate immune response in the recipient, thereby leading to BO. One hundred eighty-one donor-recipient pairs were analyzed for the association between NOD2 gene variants (SNP8 [Arg702Trp], SNP12 [Gly908Arg], and SNP13 [Leu1007fsinsC]) and the occurrence of BO. Ten patients (2.8%) developed this complication. The incidence of BO increases in recipient variant patient group from 4.7% to 23% in donor Wild-type group in SNP8 (p < 0.001). The incidence rose to 19% when the recipient carried the SNP12 variant (p < 0.001) in the Tunisian population. Analyses demonstrated that recipient NOD2CARD15 variants (SNP8 and SNP12) present a greater risk in developing BO than recipients without mutation. Our study demonstrated that NOD2/CARD15 typing may be useful in identifying patients at high risk for BO.
闭塞性细支气管炎(BO)是一种严重的肺部并发症,可在同种异体干细胞移植后发生。有研究表明,影响 NOD2/CARD15 基因的单核苷酸多态性(SNPs)会损害其功能,并导致受者的先天免疫反应失控,从而导致 BO。分析了 181 对供体-受体对,以研究 NOD2 基因变异(SNP8 [Arg702Trp]、SNP12 [Gly908Arg]和 SNP13 [Leu1007fsinsC])与 BO 发生之间的关联。10 名患者(2.8%)发生了这种并发症。在 SNP8 中,携带变异的受者的 BO 发生率从供者野生型组的 4.7%增加到 23%(p<0.001)。在突尼斯人群中,当受者携带 SNP12 变异时,发生率上升至 19%(p<0.001)。分析表明,与无突变的受者相比,携带 NOD2CARD15 变异(SNP8 和 SNP12)的受者发生 BO 的风险更大。我们的研究表明,NOD2/CARD15 分型可能有助于识别发生 BO 的高危患者。