Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype

被引:0
|
作者
Peiwei Zhao
Juan Huang
Huicong Fu
Jiali Xu
Tianhong Li
Xiankai Zhang
Qingjie Meng
Lei Zhang
Li Tan
Wen Zhang
Hebin Chen
Xiaoxia Lu
Yan Ding
Xuelian He
机构
[1] Wuhan Children’s Hospital (Wuhan Maternal and Child Healthcare Hospital,Precision Medical Center, Tongji Medical College
[2] Huazhong University of Science & Technology,Department of Pathology, Tongji Medical College
[3] Wuhan Children’s Hospital (Wuhan Maternal and Child Healthcare Hospital,Department of Respiratory Medicine, Tongji Medical College
[4] Huazhong University of Science & Technology,Department of Clinical Laboratory, Tongji Medical College
[5] Wuhan Children’s Hospital (Wuhan Maternal and Child Healthcare Hospital,Department of Rheumatology and Immunology, Tongji Medical College
[6] Huazhong University of Science & Technology,undefined
[7] Wuhan Children’s Hospital (Wuhan Maternal and Child Healthcare Hospital,undefined
[8] Huazhong University of Science & Technology,undefined
[9] Wuhan Children’s Hospital (Wuhan Maternal and Child Healthcare Hospital,undefined
[10] Huazhong University of Science & Technology,undefined
来源
关键词
Activated phosphoinositide 3-kinase δ syndrome; Immunodeficiency; Phenotype; ANCA-associated vasculitis;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [1] Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype
    Zhao, Peiwei
    Huang, Juan
    Fu, Huicong
    Xu, Jiali
    Li, Tianhong
    Zhang, Xiankai
    Meng, Qingjie
    Zhang, Lei
    Tan, Li
    Zhang, Wen
    Chen, Hebin
    Lu, Xiaoxia
    Ding, Yan
    He, Xuelian
    PEDIATRIC RHEUMATOLOGY, 2024, 22 (01)
  • [2] APDS (Activated Phosphoinositide 3-Kinase Delta Syndrome) Resulting from Gain of Function of PIK3CD Mutation
    Marques Mambriz, Anna Paula
    Carneiro, Samara Guerra
    Dias, Renata Guardiano
    Britto Cancado, Barbara Luiza
    Gontijo Junior, Julio Cesar
    Pereira, Renan Augusto
    Segundo, Gesmar Rodrigues
    Lessa Mazzucchelli, Juliana Themudo
    Costa-Carvalho, Beatriz Tavares
    JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 : S39 - S39
  • [3] Identification of a novel de novo gain-of-function mutation of PIK3CD in a patient with activated phosphoinositide 3-kinase δ syndrome
    Luo, Ying
    Xia, Yu
    Wang, Wenjing
    Li, Zhichuan
    Jin, Yan
    Gong, Yifeng
    He, Tingyan
    Li, Qiu
    Li, Chengrong
    Yang, Jun
    CLINICAL IMMUNOLOGY, 2018, 197 : 60 - 67
  • [4] A NOVEL PIK3CD MUTATION SUSPECTED TO CAUSE ACTIVATED PHOSPHOINOSITIDE 3-KINASE-DELTA SYNDROME (APDS)
    Ortiz, H.
    Rana, R.
    Davila, N. Fernandez
    Vargas-Hernandez, A.
    Forbes, L.
    Hasan, S.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2023, 131 (05) : S165 - S165
  • [5] INHIBITION OF PHOSPHOINOSITIDE 3-KINASE DELTA (PIK3CD) DECREASES HEPATOCYTE PROLIFERATION IN THE REGENERATING LIVER
    Martucci, Nicole
    Bhushan, Bharat
    Mars, Wendy M.
    Michalopoulos, George K.
    HEPATOLOGY, 2021, 74 : 302A - 302A
  • [6] A NOVEL RELATIONSHIP BETWEEN HEPATOCELLULAR INTEGRIN LINKED KINASE (HILK) AND PHOSPHOINOSITIDE 3-KINASE DELTA (PIK3CD)
    Martucci, Nicole
    Cotner, Mary-Clare
    Bhushan, Bharat
    Mars, Wendy M.
    Michalopoulos, George K.
    HEPATOLOGY, 2019, 70 : 1117A - 1117A
  • [7] Nuclear Phosphoinositide 3-kinase delta (PIK3CD) Increases with Conditional Deletion of Hepatocellular Integrin Linked Kinase
    Martucci, Nicole
    Cotner, Mary-Clare
    Bhushan, Bharat
    Mars, Wendy
    Michalopoulos, George
    FASEB JOURNAL, 2020, 34
  • [8] ACTIVATED PHOSPHOINOSITIDE 3-KINASE δ SYNDROME
    Nejentsev, Sergey
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (06) : 697 - 697
  • [9] PIK3CD mutations cause immunodeficiency
    Kyle Vogan
    Nature Genetics, 2013, 45 (12) : 1417 - 1417
  • [10] IDENTIFICATION OFA PHOSPHOINOSITIDE 3-KINASE (PI-3K) P110DELTA (PIK3CD) DEFICIENT INDIVIDUAL
    Zhang, Kejian
    Husami, Ammar
    Marsh, Rebecca
    Jordan, Michael B.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 (03) : 673 - 674