Identification of a Novel Nonsense Mutation in NFKB1 Causing Common Variable Immunodeficiency with Decreased Tfh Cells

被引：1

作者：

Li, Rui ^{[1
]}

Qian, Jinjing ^{[1
]}

Wang, Runci ^{[1
]}

Wu, Chunmei ^{[1
]}

Fu, Qiong ^{[1
]}

Lu, Liangjing ^{[1
]}

机构：

[1] Shanghai Jiao Tong Univ, Renji Hosp, Dept Rheumatol, Sch Med, Shanghai 200001, Peoples R China

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2023年 / 43卷 / 08期

基金：

中国国家自然科学基金;

关键词：

NF-KAPPA-B;

D O I：

10.1007/s10875-023-01588-3

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

引用

页码：1784 / 1787

页数：4

共 50 条

[21] Case Report: A Novel Mutation in NFKB1 Associated With Pyoderma Gangrenosum
Fang, Ran
Wang, Jun
Jiang, Xiao-yun
Wang, Shi-hao
Cheng, Hao
Zhou, Qing
FRONTIERS IN GENETICS, 2021, 12
[22] Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Tuijnenburg, Paul
Allen, Hana Lango
Burns, Siobhan O.
Greene, Daniel
Jansen, Machiel H.
Staples, Emily
Stephens, Jonathan
Carss, Keren J.
Biasci, Daniele
Baxendale, Helen
Thomas, Moira
Chandra, Anita
Kiani-Alikhan, Sorena
Longhurst, Hilary J.
Seneviratne, Suranjith L.
Oksenhendler, Eric
Simeoni, Ilenia
de Bree, Godelieve J.
Tool, Anton T. J.
van Leeuwen, Ester M. M.
Ebberink, Eduard H. T. M.
Meijer, Alexander B.
Tuna, Salih
Whitehorn, Deborah
Brown, Matthew
Turro, Ernest
Thrasher, Adrian J.
Smith, Kenneth G. C.
Thaventhiran, James E.
Kuijpers, Taco W.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2018, 142 (04) : 1285 - 1296
[23] Novel heterozygous NFKB1 mutation in a pediatric patient with cytopenias, splenomegaly, and lymphadenopathy
Duan, Lucy
Feanny, Stephen
LYMPHOSIGN JOURNAL-THE JOURNAL OF INHERITED IMMUNE DISORDERS, 2019, 6 (02): : 61 - 67
[24] Identification of novel NFKB1 and ICOS frameshift variants in patients with CVID
Liu, Anli
Liu, Qiang
Leng, Shaoqiu
Zhang, Xiaoyu
Feng, Qi
Peng, Jun
Feng, Gege
CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2023, 211 (01): : 68 - 77
[25] Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1
Anim, Manfred
Sogkas, Georgios
Schmidt, Gunnar
Dubrowinskaja, Natalia
Witte, Torsten
Schmidt, Reinhold Ernst
Atschekzei, Faranaz
FRONTIERS IN IMMUNOLOGY, 2021, 12
[26] Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation
Bergbreiter, Astrid
Jaeger, Teresa
Karle, Antje
Bitzinger, Diane
Ettl, Tobias
Spanier, Gerrit
Jaegle, Herbert
Neu, Reiner
Soeder, Yorick
Evert, Matthias
Reichert, Torsten E.
Berneburg, Mark
Brochhausen, Christoph
Schreml, Julia
Fliegauf, Manfred
Salzer, Ulrich
Redel, Andreas
Schreml, Stephan
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (03)
[27] Variable Clinical Presentation, Diagnostic and Treatment Challenges in a family with a novel variant of NFKB1
Alas, Eugenia
Ujhazi, Boglarka
Potts, David
Krausz, Mate
Hassunah, Pia
Patel, Priya
Hajirawala, Monica
Csomos, Krisztian
Grimbacher, Bodo
Walter, Jolan
CLINICAL IMMUNOLOGY, 2023, 250 : 117 - 118
[28] Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report
Franco-Jarava, Clara
Valenzuela, Irene
Riviere, Jacques G.
Garcia-Prat, Marina
Martinez-Gallo, Monica
Dieli-Crimi, Romina
Castells, Neus
Batlle-Maso, Laura
Soler-Palacin, Pere
Colobran, Roger
FRONTIERS IN IMMUNOLOGY, 2022, 13
[29] Common Variable Immunodeficiency in a young male uncovers Nuclear Factor κB-1 (NFKB1) haploinsufficiency with variable phenotype in several relatives: the importance of pursuing a genetic diagnosis
Lopez, Maria Chitty
Tabatabaian, Farnaz
Niebur, Hana
Kellner, Erinn
Uzel, Gulbu
Leiding, Jennifer
JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (SUPPL 1) : S4 - S5
[30] A NOVEL GENE MUTATION ASSOCIATED WITH COMMON VARIABLE IMMUNODEFICIENCY AND PYODERMA
Joseph, N.
Hostoffer, R.
Tcheurekdjian, H.
ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2018, 121 (05) : S94 - S94

← 1 2 3 4 5 →