Literature DB >> 15520784

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4.

Anselm Enders1, Ulrich Pannicke, Reinhard Berner, Phillip Henneke, Klaus Radlinger, Klaus Schwarz, Stephan Ehl.   

Abstract

We describe two siblings with one confirmed and one inferred homozygous base pair deletion in the gene for interleukin-1-related kinase 4 (IRAK-4) who died of pneumococcal meningitis at 2 and 14 months, respectively. Interleukin-1-related kinase 4 deficiency is a potentially lethal immunodeficiency characterized by a poor inflammatory response to pyogenic infections.

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Year:  2004        PMID： 15520784     DOI： 10.1016/j.jpeds.2004.06.065

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  18 in total

1.  IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells.

Authors:  Donald J Davidson; Andrew J Currie; Dawn M E Bowdish; Kelly L Brown; Carrie M Rosenberger; Rebecca C Ma; Johan Bylund; Paul A Campsall; Anne Puel; Capucine Picard; Jean-Laurent Casanova; Stuart E Turvey; Robert E W Hancock; Rebecca S Devon; David P Speert
Journal:  J Immunol       Date:  2006-12-01       Impact factor: 5.422

Review 2.  Human genetics of infectious diseases: a unified theory.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  EMBO J       Date:  2007-01-25       Impact factor: 11.598

Review 3.  Immunity to microbes: lessons from primary immunodeficiencies.

Authors:  Magda Carneiro-Sampaio; Antonio Coutinho
Journal:  Infect Immun       Date:  2007-02-05       Impact factor: 3.441

Review 4.  Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.

Authors:  Capucine Picard; Jean-Laurent Casanova; Anne Puel
Journal:  Clin Microbiol Rev       Date:  2011-07       Impact factor: 26.132

5.  Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.

Authors:  Erika Della Mina; Alessandro Borghesi; Hao Zhou; Salim Bougarn; Sabri Boughorbel; Laura Israel; Ilaria Meloni; Maya Chrabieh; Yun Ling; Yuval Itan; Alessandra Renieri; Iolanda Mazzucchelli; Sabrina Basso; Piero Pavone; Raffaele Falsaperla; Roberto Ciccone; Rosa Maria Cerbo; Mauro Stronati; Capucine Picard; Orsetta Zuffardi; Laurent Abel; Damien Chaussabel; Nico Marr; Xiaoxia Li; Jean-Laurent Casanova; Anne Puel
Journal:  Proc Natl Acad Sci U S A       Date:  2017-01-09       Impact factor: 11.205

6.  A nonsynonymous polymorphism of IRAK4 associated with increased prevalence of gram-positive infection and decreased response to toll-like receptor ligands.

Authors:  Ainsley M Sutherland; Keith R Walley; Taka-Aki Nakada; Andy H P Sham; Mark M Wurfel; James A Russell
Journal:  J Innate Immun       Date:  2011-05-14       Impact factor: 7.349

Review 7.  Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signals.

Authors:  Cailin Henderson; Raphaela Goldbach-Mansky
Journal:  Clin Immunol       Date:  2010-03-30       Impact factor: 3.969

8.  IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.

Authors:  Cheng-Lung Ku; Capucine Picard; Melinda Erdös; Axel Jeurissen; Jacinta Bustamante; Anne Puel; Horst von Bernuth; Orchidée Filipe-Santos; Huey-Hsuan Chang; Tatiana Lawrence; Marc Raes; László Maródi; Xavier Bossuyt; Jean-Laurent Casanova
Journal:  J Med Genet       Date:  2006-09-01       Impact factor: 6.318

Review 9.  Inherited human IRAK-4 deficiency: an update.

Authors:  Capucine Picard; Horst von Bernuth; Cheng-Lung Ku; Kun Yang; Anne Puel; Jean-Laurent Casanova
Journal:  Immunol Res       Date:  2007       Impact factor: 2.829

10.  Robust TLR4-induced gene expression patterns are not an accurate indicator of human immunity.

Authors:  Kelly L Brown; Reza Falsafi; Winnie Kum; Pamela Hamill; Jennifer L Gardy; Donald J Davidson; Stuart Turvey; Brett B Finlay; David P Speert; Robert E W Hancock
Journal:  J Transl Med       Date:  2010-01-27       Impact factor: 5.531
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