Literature DB >> 27365489

Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans.

Cyrill Schipp1, Schafiq Nabhani1, Kirsten Bienemann1, Natalia Simanovsky2, Shlomit Kfir-Erenfeld3, Nathalie Assayag-Asherie3, Prasad T Oommen1, Shoshana Revel-Vilk4, Andrea Hönscheid1, Michael Gombert1, Sebastian Ginzel5, Daniel Schäfer1, Hans-Jürgen Laws1, Eitan Yefenof3, Bernhard Fleckenstein6, Arndt Borkhardt1, Polina Stepensky4, Ute Fischer7.   

Abstract

Entities:  

Keywords:  Fas; NFKB; antibody deficiency; autoimmune lymphoproliferative syndrome; autoinflammatory disease; immunodeficiency

Mesh：

Substances：

Year:  2016        PMID： 27365489      PMCID： PMC5046658          DOI： 10.3324/haematol.2016.145136

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  15 in total

Review 1.  Series introduction: the transcription factor NF-kappaB and human disease.

Authors:  A S Baldwin
Journal:  J Clin Invest       Date:  2001-01       Impact factor: 14.808

Review 2.  Activators and target genes of Rel/NF-kappaB transcription factors.

Authors:  H L Pahl
Journal:  Oncogene       Date:  1999-11-22       Impact factor: 9.867

Review 3.  The regulation of IgA class switching.

Authors:  Andrea Cerutti
Journal:  Nat Rev Immunol       Date:  2008-06       Impact factor: 53.106

Review 4.  Function and activation of NF-kappa B in the immune system.

Authors:  P A Baeuerle; T Henkel
Journal:  Annu Rev Immunol       Date:  1994       Impact factor: 28.527

5.  Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.

Authors:  A Jain; C A Ma; S Liu; M Brown; J Cohen; W Strober
Journal:  Nat Immunol       Date:  2001-03       Impact factor: 25.606

6.  Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn's disease.

Authors:  Naohiro Inohara; Yasunori Ogura; Ana Fontalba; Olga Gutierrez; Fernando Pons; Javier Crespo; Koichi Fukase; Seiichi Inamura; Shoichi Kusumoto; Masahito Hashimoto; Simon J Foster; Anthony P Moran; Jose L Fernandez-Luna; Gabriel Nuñez
Journal:  J Biol Chem       Date:  2003-01-04       Impact factor: 5.157

7.  B cells from p50/NF-kappa B knockout mice have selective defects in proliferation, differentiation, germ-line CH transcription, and Ig class switching.

Authors:  C M Snapper; P Zelazowski; F R Rosas; M R Kehry; M Tian; D Baltimore; W C Sha
Journal:  J Immunol       Date:  1996-01-01       Impact factor: 5.422

8.  Targeted disruption of the p50 subunit of NF-kappa B leads to multifocal defects in immune responses.

Authors:  W C Sha; H C Liou; E I Tuomanen; D Baltimore
Journal:  Cell       Date:  1995-01-27       Impact factor: 41.582

9.  Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis.

Authors:  Amir S Karban; Toshihiko Okazaki; Carolien I M Panhuysen; Thomas Gallegos; James J Potter; Joan E Bailey-Wilson; Mark S Silverberg; Richard H Duerr; Judy H Cho; Peter K Gregersen; Yuqiong Wu; Jean-Paul Achkar; Themistocles Dassopoulos; Esteban Mezey; Theodore M Bayless; Franklin J Nouvet; Steven R Brant
Journal:  Hum Mol Genet       Date:  2003-11-12       Impact factor: 6.150

10.  Chronic inflammation and susceptibility to bacterial infections in mice lacking the polypeptide (p)105 precursor (NF-kappaB1) but expressing p50.

Authors:  H Ishikawa; E Claudio; D Dambach; C Raventós-Suárez; C Ryan; R Bravo
Journal:  J Exp Med       Date:  1998-04-06       Impact factor: 14.307
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  19 in total

Review 1.  Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.

Authors:  Yvan Jamilloux; Alexandre Belot; Flora Magnotti; Sarah Benezech; Mathieu Gerfaud-Valentin; Emilie Bourdonnay; Thierry Walzer; Pascal Sève; Thomas Henry
Journal:  Clin Rev Allergy Immunol       Date:  2018-06       Impact factor: 8.667

Review 2.  Pathogenic and protective roles of B cells and antibodies in patients with chronic rhinosinusitis.

Authors:  Bruce K Tan; Anju T Peters; Robert P Schleimer; Kathryn E Hulse
Journal:  J Allergy Clin Immunol       Date:  2018-05       Impact factor: 10.793

3.  Keap1 moderates the transcription of virus induced genes through G9a-GLP and NFκB p50 recruitment.

Authors:  Veronica Elizabeth Burns; Tom Klaus Kerppola
Journal:  Immunology       Date:  2022-07-07       Impact factor: 7.215

4.  A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage.

Authors:  Manfred Fliegauf; Renate Krüger; Sophie Steiner; Leif Gunnar Hanitsch; Sarah Büchel; Volker Wahn; Horst von Bernuth; Bodo Grimbacher
Journal:  Front Immunol       Date:  2021-04-27       Impact factor: 7.561

Review 5.  Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences.

Authors:  Birgit Hoeger; Nina Kathrin Serwas; Kaan Boztug
Journal:  Front Immunol       Date:  2018-01-18       Impact factor: 7.561

Review 6.  Epstein-Barr Virus-Specific Immune Control by Innate Lymphocytes.

Authors:  Christian Münz
Journal:  Front Immunol       Date:  2017-11-24       Impact factor: 7.561

Review 7.  Human immunity against EBV-lessons from the clinic.

Authors:  Stuart G Tangye; Umaimainthan Palendira; Emily S J Edwards
Journal:  J Exp Med       Date:  2017-01-20       Impact factor: 14.307

Review 8.  Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Authors:  Cristiane de Jesus Nunes-Santos; Sergio D Rosenzweig
Journal:  Front Immunol       Date:  2018-06-22       Impact factor: 7.561

9.  Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.

Authors:  William Rae; Daniel Ward; Christopher J Mattocks; Yifang Gao; Reuben J Pengelly; Sanjay V Patel; Sarah Ennis; Saul N Faust; Anthony P Williams
Journal:  Clin Transl Immunology       Date:  2017-09-15

10.  Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.

Authors:  Paul Tuijnenburg; Hana Lango Allen; Siobhan O Burns; Daniel Greene; Machiel H Jansen; Emily Staples; Jonathan Stephens; Keren J Carss; Daniele Biasci; Helen Baxendale; Moira Thomas; Anita Chandra; Sorena Kiani-Alikhan; Hilary J Longhurst; Suranjith L Seneviratne; Eric Oksenhendler; Ilenia Simeoni; Godelieve J de Bree; Anton T J Tool; Ester M M van Leeuwen; Eduard H T M Ebberink; Alexander B Meijer; Salih Tuna; Deborah Whitehorn; Matthew Brown; Ernest Turro; Adrian J Thrasher; Kenneth G C Smith; James E Thaventhiran; Taco W Kuijpers
Journal:  J Allergy Clin Immunol       Date:  2018-03-02       Impact factor: 10.793
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