Literature DB >> 25205549

Combined immune deficiency in a patient with a novel NFKB2 mutation.

Andrew W Lindsley1, Yaping Qian, C Alexander Valencia, Kara Shah, Kejian Zhang, Amal Assa'ad.   

Abstract

NFKB2 encodes the p100/p52 protein, a critical mediator of the canonical and noncanonical NFkB signaling pathways. Here we report the comprehensive immune evaluation of a child with a novel NFKB2 mutation and provide evidence that aberrant NFKB2 signaling not only causes humoral immune deficiency, but also interferes with the TCR-mediated proliferation of T cells. These observations expand the known phenotype associated with NFKB2 mutations.

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Year:  2014        PMID： 25205549      PMCID： PMC5705040          DOI： 10.1007/s10875-014-0095-3

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


  9 in total

1.  Regulation of naive T cell function by the NF-kappaB2 pathway.

Authors:  Naozumi Ishimaru; Hidehiro Kishimoto; Yoshio Hayashi; Jonathan Sprent
Journal:  Nat Immunol       Date:  2006-05-28       Impact factor: 25.606

2.  Negative regulation of TCR signaling by NF-kappaB2/p100.

Authors:  Diana Legarda-Addison; Adrian T Ting
Journal:  J Immunol       Date:  2007-06-15       Impact factor: 5.422

3.  A cell-intrinsic requirement for NF-κB-inducing kinase in CD4 and CD8 T cell memory.

Authors:  Alexander M Rowe; Susan E Murray; Hans-Peter Raué; Yoshinobu Koguchi; Mark K Slifka; David C Parker
Journal:  J Immunol       Date:  2013-09-04       Impact factor: 5.422

4.  Balance between NF-κB p100 and p52 regulates T cell costimulation dependence.

Authors:  Maria Letizia Giardino Torchia; Dietrich B Conze; Dragana Jankovic; Jonathan D Ashwell
Journal:  J Immunol       Date:  2012-12-17       Impact factor: 5.422

5.  A novel mutation in the Nfkb2 gene generates an NF-kappa B2 "super repressor".

Authors:  Elena Tucker; Kristy O'Donnell; Martina Fuchsberger; Adrienne A Hilton; Donald Metcalf; Kylie Greig; Natalie A Sims; Julian M Quinn; Warren S Alexander; Douglas J Hilton; Benjamin T Kile; David M Tarlinton; Robyn Starr
Journal:  J Immunol       Date:  2007-12-01       Impact factor: 5.422

Review 6.  Transducing signals from antigen receptors to nuclear factor kappaB.

Authors:  Jürgen Ruland; Tak W Mak
Journal:  Immunol Rev       Date:  2003-06       Impact factor: 12.988

7.  Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.

Authors:  Karin Chen; Emily M Coonrod; Attila Kumánovics; Zechariah F Franks; Jacob D Durtschi; Rebecca L Margraf; Wilfred Wu; Nahla M Heikal; Nancy H Augustine; Perry G Ridge; Harry R Hill; Lynn B Jorde; Andrew S Weyrich; Guy A Zimmerman; Adi V Gundlapalli; John F Bohnsack; Karl V Voelkerding
Journal:  Am J Hum Genet       Date:  2013-10-17       Impact factor: 11.025

8.  Novel NFKB2 mutation in early-onset CVID.

Authors:  Yiwen Liu; Steven Hanson; Padmalal Gurugama; Alison Jones; Barnaby Clark; Mohammad A A Ibrahim
Journal:  J Clin Immunol       Date:  2014-06-03       Impact factor: 8.317

9.  Nuclear factor (NF)-kappa B2 (p100/p52) is required for normal splenic microarchitecture and B cell-mediated immune responses.

Authors:  J H Caamaño; C A Rizzo; S K Durham; D S Barton; C Raventós-Suárez; C M Snapper; R Bravo
Journal:  J Exp Med       Date:  1998-01-19       Impact factor: 14.307
  9 in total
  24 in total

1.  Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

Authors:  Hye Sun Kuehn; Julie E Niemela; Karthik Sreedhara; Jennifer L Stoddard; Jennifer Grossman; Christian A Wysocki; M Teresa de la Morena; Mary Garofalo; Jingga Inlora; Michael P Snyder; David B Lewis; Constantine A Stratakis; Thomas A Fleisher; Sergio D Rosenzweig
Journal:  Blood       Date:  2017-08-04       Impact factor: 22.113

2.  Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.

Authors:  Manfred Fliegauf; Vanessa L Bryant; Natalie Frede; Charlotte Slade; See-Tarn Woon; Klaus Lehnert; Sandra Winzer; Alla Bulashevska; Thomas Scerri; Euphemia Leung; Anthony Jordan; Baerbel Keller; Esther de Vries; Hongzhi Cao; Fang Yang; Alejandro A Schäffer; Klaus Warnatz; Peter Browett; Jo Douglass; Rohan V Ameratunga; Jos W M van der Meer; Bodo Grimbacher
Journal:  Am J Hum Genet       Date:  2015-08-13       Impact factor: 11.025

Review 3.  IKK-related genetic diseases: probing NF-κB functions in humans and other matters.

Authors:  Anna Senegas; Jérémie Gautheron; Alice Gentil Dit Maurin; Gilles Courtois
Journal:  Cell Mol Life Sci       Date:  2014-11-29       Impact factor: 9.261

Review 4.  The non-canonical NF-κB pathway in immunity and inflammation.

Authors:  Shao-Cong Sun
Journal:  Nat Rev Immunol       Date:  2017-06-05       Impact factor: 53.106

5.  Impact of loss of NF-κB1, NF-κB2 or c-REL on SLE-like autoimmune disease and lymphadenopathy in Fas(lpr/lpr) mutant mice.

Authors:  J T Low; P Hughes; A Lin; U Siebenlist; R Jain; K Yaprianto; D H D Gray; S Gerondakis; A Strasser; L A O'Reilly
Journal:  Immunol Cell Biol       Date:  2015-06-18       Impact factor: 5.126

6.  B-cell survival and development controlled by the coordination of NF-κB family members RelB and cRel.

Authors:  Jonathan V Almaden; Yi C Liu; Edward Yang; Dennis C Otero; Harry Birnbaum; Jeremy Davis-Turak; Masataka Asagiri; Michael David; Ananda W Goldrath; Alexander Hoffmann
Journal:  Blood       Date:  2016-01-14       Impact factor: 22.113

7.  Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.

Authors:  Charlotte A Slade; Catriona McLean; Thomas Scerri; Tran Binh Giang; Steven Megaloudis; Alexander Strathmore; Jessica C Tempany; Katherine Nicholls; Colleen D'Arcy; Melanie Bahlo; Philip D Hodgkin; Jo A Douglass; Vanessa L Bryant
Journal:  J Clin Immunol       Date:  2019-03-29       Impact factor: 8.542

Review 8.  Lessons learned from the study of human inborn errors of innate immunity.

Authors:  Giorgia Bucciol; Leen Moens; Barbara Bosch; Xavier Bossuyt; Jean-Laurent Casanova; Anne Puel; Isabelle Meyts
Journal:  J Allergy Clin Immunol       Date:  2018-08-01       Impact factor: 10.793

Review 9.  Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.

Authors:  Emily S J Edwards; Julian J Bosco; Samar Ojaimi; Robyn E O'Hehir; Menno C van Zelm
Journal:  Cell Mol Immunol       Date:  2020-08-17       Impact factor: 11.530

10.  Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Authors:  C Alexander Valencia; Ammar Husami; Jennifer Holle; Judith A Johnson; Yaping Qian; Abhinav Mathur; Chao Wei; Subba Rao Indugula; Fanggeng Zou; Haiying Meng; Lijun Wang; Xia Li; Rachel Fisher; Tony Tan; Amber Hogart Begtrup; Kathleen Collins; Katie A Wusik; Derek Neilson; Thomas Burrow; Elizabeth Schorry; Robert Hopkin; Mehdi Keddache; John Barker Harley; Kenneth M Kaufman; Kejian Zhang
Journal:  Front Pediatr       Date:  2015-08-03       Impact factor: 3.418
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