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Phenotypic characterization of patients with activated PI3Kδ syndrome 1 presenting with features of systemic lupus erythematosus

查看全文 作　　者：Yanping [1,2,3]Wang;Qiuyun [1,2,3]Yang;Xuemei [1,2,3]Chen;Wenjing [4]Tang;Lina [1,2,3]Zhou;Zhi [1,2,3]Chen;Yunfei [4]An;Zhiyong [4]Zhang;Xuemei [4]Tang;Xiaodong [1,2,3,4]Zhao 高影响力作者 机构地区：[1]National Clinical Research Center for Child Health and Disorders(Chongqing),Children’s Hospital ofChongqing Medical University,Chongqing,400014,PR China;[2]China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Children’s Hospital of Chongqing Medical University,Chongqing,400014,PR China;[3]Chongqing Key Laboratory of Child Infection and Immunity,Children’s Hospital of Chongqing Medical University,Chongqing,400014,PR China;[4]Division of Rheumatology and Immunology,Children’s Hospital of Chongqing Medical University,Chongqing,400014,PR China高影响力机构 出　　处：《Genes & Diseases》索引2021年第8卷第6期,共11页高影响力期刊 基　　金：This work was supported by the Natural Science Foundation of China[grant number 81974255];Science and Technology Research Program of Chongqing Municipal Education Commission,China[grant number KJZD-M201800401]. 摘　　要：Activated phosphoinositide 3-kinase d syndrome 1(APDS1)is a primary immunode-ficiency disease caused by gain-of-function mutations in PIK3CD.Clinical features of autoimmune disease have been reported in patients with APDS1.In this study,we reported three patients with APDS1 presenting with systemic lupus erythematosus(SLE)phenotype.The clinical manifestations included recurrent respiratory tract infection,lymphoproliferation,Coombs-positive hemolytic anemia,decreased complement fractions,positive antinuclear antibodies,renal complications related to SLE associated diseases,which met the clinical spectrum of APDS1 and the classification criteria of SLE.The immunological phenotype included an inversion in the CD4:CD8 ratio,an increase in both non-circulating Tfh CD4^(+)memory T and circulating Tfh populations,a low level of recent thymic emigrant T cells,overexpression of CD57 on T cells,and a decrease in B cells with fewer antibody class switch recombination.These phenotypes detected in patients with APDS1 presenting with SLE were resemble that in patients with APDS1 presenting without SLE.Meanwhile,we described the effect of glucocorticoids and rapamycin therapy on patients with APDS1.The phosphorylation of S6 at Ser235/236 was inhibited in patients with APDS1 who underwent glucocorticoids therapy,including two who presented with SLE phenotype.The phosphorylation of AKT at Ser473 and phosphorylation of S6 at Ser235/236 were inhibited in other patients with APDS1 who underwent rapamycin therapy.Here,we showed the coexistence of immunodeficiency and SLE phenotype in APDS1,and the inhibition of rapamycin in activated Akt-mTOR signaling pathway. 关 键 词：Activated phosphoinositide 3-kinase dsyndrome 1 Autoimmune disease Immunosuppressive therapy PIK3CD Systemic lupus erythematosus
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