How do nuclear factor kappa B (NF-κB)1 and NF-κB2 defects lead to the incidence of clinical and immunological manifestations of inborn errors of immunity?

被引:7
作者
Fathi, Nazanin [1 ,2 ]
Mojtahedi, Hanieh [2 ,3 ]
Nasiri, Marzieh [1 ]
Abolhassani, Hassan [1 ,4 ]
Marzbali, Mahsa Yousefpour [1 ,5 ]
Esmaeili, Marzie [1 ,2 ]
Salami, Fereshte [1 ,2 ]
Biglari, Furozan [6 ]
Rezaei, Nima [1 ,2 ,7 ,8 ]
机构
[1] Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran
[2] Universal Sci Educ & Res Network USERN, Network Immun Infect Malignancy & Autoimmun NIIMA, Tehran, Iran
[3] Shahid Beheshti Univ Med Sci, Sch Med, Dept Immunol, Tehran, Iran
[4] Karolinska Inst, Dept Biosci & Nutr, Stockholm, Sweden
[5] Universal Sci Educ & Res Network USERN, Int Network Stem Cell INSC, Tehran, Iran
[6] Univ Tehran Med Sci, Sch Med, Tehran, Iran
[7] Univ Tehran Med Sci, Sch Med, Dept Immunol, Tehran, Iran
[8] Childrens Med Ctr Hosp, Res Ctr Immunodeficiencies, Dr Qarib St, Keshavarz Blvd, Tehran, Iran
关键词
Antibody deficiency; common variable immunodeficiency; inborn errors of immunity; NF-kappa B1; NF-kappa B2; nuclear factor kappa B; primary immunodeficiency; CELLS; NFKB2; MUTATIONS; DEFICIENCY; LANDSCAPE; ALOPECIA; ALPHA; CHAIN; GAIN; AID;
D O I
10.1080/1744666X.2023.2174105
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Introduction: Genetic defects affect the manner of the immune system's development, activation, and function. Nuclear factor-kappa B subunit 1 (NF-kappa B1) and NF-kappa B2 are involved in different biological processes, and deficiency in these transcription factors may reveal clinical and immunological difficulties.Areas covered: This review article gathers the most frequent clinical and immunological remarkable characteristics of NF-kappa B1 and NF-kappa B2 deficiencies. Afterward, an effort is made to describe the biological mechanism, which is likely to be the cause of these clinical and immunological abnormalities.Expert opinion: The present review article has explained the mechanism of contributions of the NF-kappa B1 and NF-kappa B2 deficiency in revealing immunodeficiency symptoms, specifically immunological and clinical manifestations. These mechanisms demonstrate the importance of NF-kappa B1 and NF-kappa B2 signaling path-ways for B and T cell development, activation, antibody production, and immunotolerance. The manifestation of a mutation can range from no symptoms to severe complications in a family.
引用
收藏
页码:329 / 339
页数:11
相关论文
共 61 条
  • [1] Current genetic landscape in common variable immune deficiency
    Abolhassani, Hassan
    Hammarstrom, Lennart
    Cunningham-Rundles, Charlotte
    [J]. BLOOD, 2020, 135 (09) : 656 - 667
  • [2] Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency
    Abolhassani, Hassan
    Aghamohammadi, Asghar
    Fang, Mingyan
    Rezaei, Nima
    Jiang, Chongyi
    Liu, Xiao
    Pan-Hammarstrom, Qiang
    Hammarstrom, Lennart
    [J]. GENETICS IN MEDICINE, 2019, 21 (01) : 243 - 251
  • [3] Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome
    Aird, Alejandra
    Lagos, Macarena
    Vargas-Hernandez, Alexander
    Posey, Jennifer E.
    Coban-Akdemir, Zeynep
    Jhangiani, Shalini
    Mace, Emily M.
    Reyes, Anaid
    King, Alejandra
    Cavagnaro, Felipe
    Forbes, Lisa R.
    Chinn, Ivan K.
    Lupski, James R.
    Orange, Jordan S.
    Cecilia Poli, Maria
    [J]. FRONTIERS IN PEDIATRICS, 2019, 7
  • [4] NF-κB: At the Borders of Autoimmunity and Inflammation
    Barnabei, Laura
    Laplantine, Emmanuel
    Mbongo, William
    Rieux-Laucat, Frederic
    Weil, Robert
    [J]. FRONTIERS IN IMMUNOLOGY, 2021, 12
  • [5] Human mucosal-associated invariant T (MAIT) cells possess capacity for B cell help
    Bennett, Michael S.
    Trivedi, Shubhanshi
    Iyer, Anita S.
    Hale, J. Scott
    Leung, Daniel T.
    [J]. JOURNAL OF LEUKOCYTE BIOLOGY, 2017, 102 (05) : 1261 - 1269
  • [6] Bergbreiter A., 2021, EUR J MED GENET, P64
  • [7] More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation
    Bienias, Marc
    Gabrielyan, Anastasia
    Geberzahn, Linda
    Roesen-Wolff, Angela
    Huebner, Angela
    Jacobsen, Eva-Maria
    Toepfner, Nicole
    Fang, Mingyan
    Lee-Kirsch, Min Ae
    Roesler, Joachim
    Schuetz, Catharina
    [J]. PEDIATRIC ALLERGY AND IMMUNOLOGY, 2021, 32 (04) : 791 - 795
  • [8] The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID)
    Bisgin, Atil
    Sonmezler, Ozge
    Boga, Ibrahim
    Yilmaz, Mustafa
    [J]. SCIENTIFIC REPORTS, 2021, 11 (01)
  • [9] Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency
    Boisson, Bertrand
    Puel, Anne
    Picard, Capucine
    Casanova, Jean-Laurent
    [J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 (05) : 397 - 412
  • [10] NF-κB and the regulation of hematopoiesis
    Bottero, V
    Withoff, S
    Verma, IM
    [J]. CELL DEATH AND DIFFERENTIATION, 2006, 13 (05) : 785 - 797