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

Yanping Wang; Qiuyun Yang; Xuemei Chen; Wenjing Tang; Lina Zhou; Zhi Chen; Yunfei An; Zhiyong Zhang; Xuemei Tang; Xiaodong Zhao

doi:10.1016/j.gendis.2020.04.012

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

Full-length article | 更新时间：2022-06-24

- Phenotypic characterization of patients with activated PI3Kδ syndrome 1 presenting with features of systemic lupus erythematosus
- Phenotypic characterization of patients with activated PI3Kδ syndrome 1 presenting with features of systemic lupus erythematosus
- Genes & Diseases 2021年8卷第6期
- 作者机构：
  
  1. National Clinical Research Center for Child Health and Disorders (Chongqing), Children’s Hospital ofChongqing Medical University,Chongqing,PR China,400014
  2. China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University,Chongqing,PR China,400014
  3. Chongqing Key Laboratory of Child Infection and Immunity, Children's Hospital of Chongqing Medical University,Chongqing,PR China,400014
  4. Division of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University,Chongqing,PR China,400014
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2020.04.012
  中图分类号：
- 纸质出版日期：2021，
  
  网络出版日期：2021-11-1，
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Yanping Wang, Qiuyun Yang, Xuemei Chen, 等. Phenotypic characterization of patients with activated PI3Kδ syndrome 1 presenting with features of systemic lupus erythematosus[J]. Genes & Diseases, 2021,8(6).

Yanping Wang, Qiuyun Yang, Xuemei Chen, et al. Phenotypic characterization of patients with activated PI3Kδ syndrome 1 presenting with features of systemic lupus erythematosus[J]. Genes & Diseases, 2021,8(6).
Yanping Wang, Qiuyun Yang, Xuemei Chen, 等. Phenotypic characterization of patients with activated PI3Kδ syndrome 1 presenting with features of systemic lupus erythematosus[J]. Genes & Diseases, 2021,8(6). DOI： 10.1016/j.gendis.2020.04.012.

Yanping Wang, Qiuyun Yang, Xuemei Chen, et al. Phenotypic characterization of patients with activated PI3Kδ syndrome 1 presenting with features of systemic lupus erythematosus[J]. Genes & Diseases, 2021,8(6). DOI： 10.1016/j.gendis.2020.04.012.

摘要

Abstract

ivated phosphoinositide 3-kinase δ syndrome 1 (APDS1) is a primary immunodeficiency 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

Keywords

Activated phosphoinositide 3-kinase δsyndrome 1Autoimmune diseaseImmunosuppressive therapyPIK3CDSystemic lupus erythematosus

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