Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Genes and Immunity
M PaciollaM V Ursini

Abstract

Mendelian primary immunodeficiency diseases (MPIDs) are rare disorders affecting distinct constituents of the innate and adaptive immune system. Although they are genetically heterogeneous, a substantial group of MPIDs is due to mutations in genes affecting the nuclear factor-κB (NF-κB) transcription pathway, essential for cell proliferation and cell survival and involved in innate immunity and inflammation. Many of these genes encode for crucial regulatory components of the NF-κB pathway and their mutations are associated with immunological and developmental signs somehow overlapping in patients with MPIDs. At present, nine different MPIDs listed in the online mendelian inheritance in man (OMIM) are caused by mutations in at least nine different genes strictly involved in the NF-κB pathway that result in defects in immune responses. Here we report on the distinct function of each causative gene, on the impaired NF-κB step and more in general on the molecular mechanisms underlining the pathogenesis of the disease. Overall, the MPIDs affecting the NF-κB signalosome require a careful integrated diagnosis and appropriate genetic tests to be molecularly identified. Their discovery at an ever-increasing rate will help establish a co...Continue Reading

References

Apr 18, 2002·Proceedings of the National Academy of Sciences of the United States of America·Shyun LiHolger Wesche
Mar 15, 2003·Science·Capucine PicardJean-Laurent Casanova
Nov 13, 2003·Current Opinion in Allergy and Clinical Immunology·Capucine PicardJean-Laurent Casanova
Jan 22, 2004·Current Opinion in Immunology·Anne PuelJean-Laurent Casanova
Sep 1, 2004·The Journal of Experimental Medicine·Riny JanssenArjan Lankester
Nov 2, 2005·Nature Reviews. Immunology·Charlotte Cunningham-Rundles, Prashant P Ponda
May 2, 2006·The Journal of Pediatrics·María CardenesCarlos Rodríguez-Gallego
Jul 5, 2006·The Journal of Experimental Medicine·Orchidée Filipe-SantosJean-Laurent Casanova
Oct 19, 2006·Trends in Immunology·Nobutaka Suzuki, Takashi Saito
Jan 17, 2007·Journal of the American Academy of Dermatology·Francesca FuscoMatilde Valeria Ursini
Aug 19, 2007·Cancer Cell·Jonathan J KeatsP Leif Bergsagel
Sep 20, 2007·The Journal of Immunology : Official Journal of the American Association of Immunologists·Cyrille HoarauCarole Elbim
Oct 6, 2007·Immunologic Research·Capucine PicardJean-Laurent Casanova
Dec 18, 2007·Current Opinion in Immunology·Jacinta BustamanteJean-Laurent Casanova
Aug 2, 2008·Science·Horst von BernuthJean-Laurent Casanova
Nov 27, 2008·The Journal of Biological Chemistry·Florence CordierFabrice Agou
Jan 13, 2009·Nature Cell Biology·Fuminori TokunagaKazuhiro Iwai
Feb 3, 2009·Molecular Cell·Yu-Chih LoHao Wu
Feb 17, 2009·Molecular Cell·Zhijian J Chen, Lijun J Sun
Mar 24, 2009·Annual Review of Immunology·Sivakumar Vallabhapurapu, Michael Karin
Oct 27, 2009·Molecular Cell·Wenwen ZengZhijian J Chen
Oct 30, 2009·Proceedings of the National Academy of Sciences of the United States of America·Chee-Kwee Ea, David Baltimore
Jan 19, 2011·Cell Research·Matthew S Hayden, Sankar Ghosh
Jul 8, 2011·Clinical Microbiology Reviews·Capucine PicardAnne Puel
Nov 15, 2011·The Journal of Allergy and Clinical Immunology·Hidenori OhnishiNaomi Kondo
Nov 23, 2011·The Journal of Clinical Investigation·Vanessa Sancho-ShimizuJean-Laurent Casanova

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Citations

Mar 9, 2017·The Journal of Allergy and Clinical Immunology·Amos EtzioniEli Pikarsky
May 5, 2017·The Journal of Clinical Endocrinology and Metabolism·Rayhan A LalDavid B Lewis
May 22, 2019·Sexual Abuse : a Journal of Research and Treatment·Kristen M Zgoba, Devin Cowan
Jul 18, 2019·Journal of Leukocyte Biology·Mahdis MonajemiLaura M Sly
Apr 8, 2020·Frontiers in Neurology·Peggy S EisEli Hatchwell
Jul 11, 2018·Frontiers in Immunology·Cristiane de Jesus Nunes-Santos, Sergio D Rosenzweig

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Methods Mentioned

BETA
nuclear translocation
acetylation
ubiquitination
dissection

Software Mentioned

NEMO

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