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：

Pediatric Rheumatology | / 22卷

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

共 45 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] 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
[3] Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study
Elkaim, Elodie
Neven, Benedicte
Bruneau, Julie
Mitsui-Sekinaka, Kanako
Stanislas, Aurelie
Heurtier, Lucie
Lucas, Carrie L.
Matthews, Helen
Deau, Marie-Celine
Sharapova, Svetlana
Curtis, James
Reichenbach, Janine
Glastre, Catherine
Parry, David A.
Arumugakani, Gururaj
McDermott, Elizabeth
Kilic, Sara Sebnem
Yamashita, Motoi
Moshous, Despina
Lamrini, Hicham
Otremba, Burkhard
Gennery, Andrew
Coulter, Tanya
Quinti, Isabella
Stephan, Jean-Louis
Lougaris, Vassilios
Brodszki, Nicholas
Barlogis, Vincent
Asano, Takaki
Galicier, Lionel
Boutboul, David
Nonoyama, Shigeaki
Cant, Andrew
Imai, Kohsuke
Picard, Capucine
Nejentsev, Sergey
Molina, Thierry Jo
Lenardo, Michael
Savic, Sinisa
Cavazzana, Marina
Fischer, Alain
Durandy, Anne
Kracker, Sven
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2016, 138 (01) : 210 - +
[4] Natural Course of Activated Phosphoinositide 3-Kinase Delta Syndrome in Childhood and Adolescence
Bloomfield, Marketa
Klocperk, Adam
Zachova, Radana
Milota, Tomas
Kanderova, Veronika
Sediva, Anna
FRONTIERS IN PEDIATRICS, 2021, 9
[5] Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis
Hartman, Heather N.
Niemela, Julie
Hintermeyer, Mary K.
Garofalo, Mary
Stoddard, Jennifer
Verbsky, James W.
Rosenzweig, Sergio D.
Routes, John M.
JOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 (01) : 11 - 14
[6] Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis
Heather N. Hartman
Julie Niemela
Mary K. Hintermeyer
Mary Garofalo
Jennifer Stoddard
James W. Verbsky
Sergio D. Rosenzweig
John M. Routes
Journal of Clinical Immunology, 2015, 35 : 11 - 14
[7] Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility
M. C. Crank
J. K. Grossman
S. Moir
S. Pittaluga
C. M. Buckner
L. Kardava
A. Agharahimi
H. Meuwissen
J. Stoddard
J. Niemela
H. Kuehn
S. D. Rosenzweig
Journal of Clinical Immunology, 2014, 34 : 272 - 276
[8] Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility
Crank, M. C.
Grossman, J. K.
Moir, S.
Pittaluga, S.
Buckner, C. M.
Kardava, L.
Agharahimi, A.
Meuwissen, H.
Stoddard, J.
Niemela, J.
Kuehn, H.
Rosenzweig, S. D.
JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (03) : 272 - 276
[9] Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
Coulter, Tanya I.
Chandra, Anita
Bacon, Chris M.
Babar, Judith
Curtis, James
Screaton, Nick
Goodlad, John R.
Farmer, George
Steele, Cathal Laurence
Leahy, Timothy Ronan
Doffinger, Rainer
Baxendale, Helen
Bernatoniene, Jolanta
Edgar, J. David M.
Longhurst, Hilary J.
Ehl, Stephan
Speckmann, Carsten
Grimbacher, Bodo
Sediva, Anna
Milota, Tomas
Faust, Saul N.
Williams, Anthony P.
Hayman, Grant
Kucuk, Zeynep Yesim
Hague, Rosie
French, Paul
Brooker, Richard D
Forsyth, Peter
Herriot, Richard
Cancrini, Caterina
Palma, Paolo
Ariganello, Paola
Conlon, Niall
Feighery, Conleth
Gavin, Patrick J.
Jones, Alison
Imai, Kohsuke
Ibrahim, Mohammad A
Markelj, Gasper
Abinun, Mario
Rieux-Laucat, Frederic
Latour, Sylvain
Pellier, Isabelle
Fischer, Alain
Touzot, Fabien
Casanova, Jean-Laurent
Durandy, Anne
Burns, Siobhan O
Savic, Sinisa
Kumararatne, D. S.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 139 (02) : 597 - +
[10] Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1
Jiang, Lu
Hu, Xiaohan
Lin, Qiang
Chen, Ruyue
Shen, Yunyan
Zhu, Yun
Xu, Qinying
Li, Xiaozhong
ALLERGY ASTHMA AND CLINICAL IMMUNOLOGY, 2023, 19 (01)

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