Literature DB >> 29534156

IKBKG (NEMO) 5' Untranslated Splice Mutations Lead to Severe, Chronic Disseminated Mycobacterial Infections.

Amy P Hsu1, Christa S Zerbe1, Ladan Foruraghi1, Nicole M Iovine2, Jennifer W Leiding3, David M Mushatt4, Laurianne Wild5, Douglas B Kuhns6, Steven M Holland1.   

Abstract

Four patients with adult-onset, disseminated mycobacterial infection had 5' UTR mutations in IKBKG without clear physical stigmata of NEMO deficiency. These mutations caused decreased levels of NEMO protein and Toll-like receptor driven cytokine production. Three patients died from disseminated disease. These mutations may be missed by whole exome sequencing.

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Year:  2018        PMID： 29534156      PMCID： PMC6051446          DOI： 10.1093/cid/ciy186

Source DB:  PubMed          Journal:  Clin Infect Dis        ISSN： 1058-4838            Impact factor:   9.079


  12 in total

1.  Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling.

Authors:  Arianna Nenci; Marion Huth; Alfred Funteh; Marc Schmidt-Supprian; Wilhelm Bloch; Daniel Metzger; Pierre Chambon; Klaus Rajewsky; Thomas Krieg; Ingo Haase; Manolis Pasparakis
Journal:  Hum Mol Genet       Date:  2006-01-06       Impact factor: 6.150

Review 2.  Host susceptibility to non-tuberculous mycobacterial infections.

Authors:  Un-In Wu; Steven M Holland
Journal:  Lancet Infect Dis       Date:  2015-06-03       Impact factor: 25.071

3.  Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency.

Authors:  Shuhei Karakawa; Satoshi Okada; Miyuki Tsumura; Yoko Mizoguchi; Norioki Ohno; Shin'ichiro Yasunaga; Motoaki Ohtsubo; Tomoki Kawai; Ryuta Nishikomori; Takemasa Sakaguchi; Yoshihiro Takihara; Masao Kobayashi
Journal:  J Clin Immunol       Date:  2011-07-01       Impact factor: 8.317

4.  X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

Authors:  R Döffinger; A Smahi; C Bessia; F Geissmann; J Feinberg; A Durandy; C Bodemer; S Kenwrick; S Dupuis-Girod; S Blanche; P Wood; S H Rabia; D J Headon; P A Overbeek; F Le Deist; S M Holland; K Belani; D S Kumararatne; A Fischer; R Shapiro; M E Conley; E Reimund; H Kalhoff; M Abinun; A Munnich; A Israël; G Courtois; J L Casanova
Journal:  Nat Genet       Date:  2001-03       Impact factor: 38.330

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.  A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).

Authors:  J Zonana; M E Elder; L C Schneider; S J Orlow; C Moss; M Golabi; S K Shapira; P A Farndon; D W Wara; S A Emmal; B M Ferguson
Journal:  Am J Hum Genet       Date:  2000-10-24       Impact factor: 11.025

7.  Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

Authors:  Eric P Hanson; Linda Monaco-Shawver; Laura A Solt; Lisa A Madge; Pinaki P Banerjee; Michael J May; Jordan S Orange
Journal:  J Allergy Clin Immunol       Date:  2008-10-11       Impact factor: 10.793

8.  Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies.

Authors:  Jana P Lovell; Ladan Foruraghi; Alexandra F Freeman; Gulbu Uzel; Christa S Zerbe; Helen Su; Amy P Hsu; Steven M Holland
Journal:  J Allergy Clin Immunol       Date:  2016-04-24       Impact factor: 10.793

9.  Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Authors:  A Smahi; G Courtois; P Vabres; S Yamaoka; S Heuertz; A Munnich; A Israël; N S Heiss; S M Klauck; P Kioschis; S Wiemann; A Poustka; T Esposito; T Bardaro; F Gianfrancesco; A Ciccodicola; M D'Urso; H Woffendin; T Jakins; D Donnai; H Stewart; S J Kenwrick; S Aradhya; T Yamagata; M Levy; R A Lewis; D L Nelson
Journal:  Nature       Date:  2000-05-25       Impact factor: 49.962

10.  Heatmapper: web-enabled heat mapping for all.

Authors:  Sasha Babicki; David Arndt; Ana Marcu; Yongjie Liang; Jason R Grant; Adam Maciejewski; David S Wishart
Journal:  Nucleic Acids Res       Date:  2016-05-17       Impact factor: 16.971
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  2 in total

1.  Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Authors:  Bertrand Boisson; Yoshitaka Honda; Masahiko Ajiro; Jacinta Bustamante; Matthieu Bendavid; Andrew R Gennery; Yuri Kawasaki; Jose Ichishima; Mitsujiro Osawa; Hiroshi Nihira; Takeshi Shiba; Takayuki Tanaka; Maya Chrabieh; Benedetta Bigio; Hong Hur; Yuval Itan; Yupu Liang; Satoshi Okada; Kazushi Izawa; Ryuta Nishikomori; Osamu Ohara; Toshio Heike; Laurent Abel; Anne Puel; Megumu K Saito; Jean-Laurent Casanova; Masatoshi Hagiwara; Takahiro Yasumi
Journal:  J Clin Invest       Date:  2018-12-18       Impact factor: 14.808

Review 2.  Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Authors:  Jérémie Rosain; Xiao-Fei Kong; Ruben Martinez-Barricarte; Carmen Oleaga-Quintas; Noé Ramirez-Alejo; Janet Markle; Satoshi Okada; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  Immunol Cell Biol       Date:  2018-10-25       Impact factor: 5.126
  2 in total

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