A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation

被引:0
|
作者
Keith Sacco
Hye Sun Kuehn
Tomoki Kawai
Nouf Alsaati
Lauren Smith
Blachy Davila
Vanessa Bundy
Douglas B. Kuhns
Kerry Dobbs
Ottavia Delmonte
Luigi D. Notarangelo
Sergio D. Rosenzweig
Michael D. Keller
机构
[1] National Institute of Allergy and Infectious Diseases,Laboratory of Clinical Immunology and Microbiology, Immune Deficiency Genetics Section, Division of Intramural Research
[2] NIH,Division of Pulmonology, Section of Allergy
[3] Phoenix Children’s Hospital,Immunology
[4] National Institutes of Health (NIH) Clinical Center,Immunology Service, Department of Laboratory Medicine
[5] Children’s National Hospital,Division of Allergy and Immunology
[6] Children’s Hospital of the King’s Daughters,Eastern Virginia Medical School
[7] Children’s National Hospital,Division of Blood and Marrow Transplantation
[8] Leidos Biomedical Research,undefined
[9] Inc.,undefined
[10] Frederick National Laboratory for Cancer Research,undefined
来源
关键词
Autoinflammation; Autoimmunity; Primary immunodeficiency; T cell lymphopenia; Inborn error of Immunity; NF-κB signaling;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:512 / 520
页数:8
相关论文
共 50 条
  • [41] A Rare SK2 Channel Variant Confers a Gain-of-Function Phenotype
    Wang, Zhuo
    Ko, Jum-Suk
    Vatta, Matteo
    Celestino-Soper, Patricia
    Lynnes, Ty C.
    Chen, Peng-Sheng
    Rubart, Michael
    BIOPHYSICAL JOURNAL, 2017, 112 (03) : 235A - 235A
  • [42] Identification and characterization of a novel gain-of-function splice variant of Fc gamma receptor
    van der Heijden, J.
    van Mirre, E.
    Breunis, W. B.
    Geissler, J.
    Wouters, D.
    van Deuren, M.
    van der Meer, J. W. M.
    Roos, D.
    Hack, E.
    Kuijpers, T. W.
    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 2009, 39 : 25 - 25
  • [43] STAT6 gain-of-function variant exacerbates multiple allergic symptoms
    Takeuchi, Ichiro
    Yanagi, Kumiko
    Takada, Shuji
    Uchiyama, Toru
    Igarashi, Arisa
    Motomura, Kenichiro
    Hayashi, Yuka
    Nagano, Naoko
    Matsuoka, Ryo
    Sugiyama, Hiroki
    Yoshioka, Takako
    Saito, Hirohisa
    Kawai, Toshinao
    Miyaji, Yumiko
    Inuzuka, Yusuke
    Matsubara, Yoichi
    Ohya, Yukihiro
    Shimizu, Toshiaki
    Matsumoto, Kenji
    Arai, Katsuhiro
    Nomura, Ichiro
    Kaname, Tadashi
    Morita, Hideaki
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2023, 151 (05) : 1402 - +
  • [44] Novel Presentation of a Mosaic STAT5B Gain-of-Function Variant
    Schmitt, Erica
    Saucier, Nermina
    Risma, Samuel
    Toler, Tomi
    Semkiu, Katarina
    Mar, Soe
    Cooper, Megan
    CLINICAL IMMUNOLOGY, 2023, 250 : 38 - 39
  • [45] Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia
    Dijk, Wieneke
    Di Filippo, Mathilde
    Kooijman, Sander
    van Eenige, Robin
    Rimbert, Antoine
    Caillaud, Amandine
    Thedrez, Aurelie
    Arnaud, Lucie
    Pronk, Amanda
    Garcon, Damien
    Sotin, Thibaud
    Lindenbaum, Pierre
    Garcia, Enrique Ozcariz
    De Barros, Jean-Paul Pais
    Duvillard, Laurence
    Si-Tayeb, Karim
    Amigo, Nuria
    Le Questel, Jean-Yves
    Rensen, Patrick C. N.
    Le May, Cedric
    Moulin, Philippe
    Cariou, Bertrand
    CIRCULATION, 2022, 146 (10) : 724 - 739
  • [46] Characterization of a new mouse p53 variant: loss-of-function and gain-of-function
    Chan, James Yi-Hsin
    Chen, Ying-Chuan
    Liu, Shu-Ting
    Chou, Wei-Yuan
    Ho, Ching-Liang
    Huang, Shih-Ming
    JOURNAL OF BIOMEDICAL SCIENCE, 2014, 21
  • [47] Characterization of a new mouse p53 variant: loss-of-function and gain-of-function
    James Yi-Hsin Chan
    Ying-Chuan Chen
    Shu-Ting Liu
    Wei-Yuan Chou
    Ching-Liang Ho
    Shih-Ming Huang
    Journal of Biomedical Science, 21
  • [48] Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3
    Omoyinmi, Ebun
    Mohamoud, Iman
    Gilmour, Kimberly
    Brogan, Paul A.
    Eleftheriou, Despina
    FRONTIERS IN IMMUNOLOGY, 2018, 9
  • [49] Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele
    Adlkofer, K
    Naef, R
    Suter, U
    JOURNAL OF NEUROSCIENCE RESEARCH, 1997, 49 (06) : 671 - 680
  • [50] Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation
    Ayca Kiykim
    Louis Marie Charbonnier
    Arzu Akcay
    Elif Karakoc-Aydiner
    Ahmet Ozen
    Gulyuz Ozturk
    Talal A. Chatila
    Safa Baris
    Journal of Clinical Immunology, 2019, 39 : 37 - 44