Literature DB >> 16647422

Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives.

María Cardenes1, Horst von Bernuth, Ayoze García-Saavedra, Esther Santiago, Anne Puel, Cheng-Lung Ku, Jean-François Emile, Capucine Picard, Jean-Laurent Casanova, Elena Colino, Ana Bordes, Antonio Garfia, Carlos Rodríguez-Gallego.   

Abstract

We report a kindred with autosomal recessive interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency in 3 fourth-degree relatives. A diagnosis of IRAK-4 deficiency should be considered in families with invasive bacterial disease, even if the individuals affected are only distantly related, which falsely suggests multigenic or dominant inheritance with low penetrance.

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Year:  2006        PMID： 16647422     DOI： 10.1016/j.jpeds.2005.12.012

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


  13 in total

Review 1.  Regulations and roles of the interleukin-1 receptor associated kinases (IRAKs) in innate and adaptive immunity.

Authors:  Lu Gan; Liwu Li
Journal:  Immunol Res       Date:  2006       Impact factor: 2.829

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.  The involvement of the interleukin-1 receptor-associated kinases (IRAKs) in cellular signaling networks controlling inflammation.

Authors:  Lorna Ringwood; Liwu Li
Journal:  Cytokine       Date:  2008-01-30       Impact factor: 3.861

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.  Impaired innate immunity in mice deficient in interleukin-1 receptor-associated kinase 4 leads to defective type 1 T cell responses, B cell expansion, and enhanced susceptibility to infection with Toxoplasma gondii.

Authors:  Samantha R Béla; Míriam S Dutra; Ernest Mui; Alexandre Montpetit; Fernanda S Oliveira; Sérgio C Oliveira; Rosa M E Arantes; Lis R Antonelli; Rima McLeod; Ricardo T Gazzinelli
Journal:  Infect Immun       Date:  2012-10-01       Impact factor: 3.441

Review 7.  Genetic variation in Toll-like receptors and disease susceptibility.

Authors:  Mihai G Netea; Cisca Wijmenga; Luke A J O'Neill
Journal:  Nat Immunol       Date:  2012-05-18       Impact factor: 25.606

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.  Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.

Authors:  Cheng-Lung Ku; Horst von Bernuth; Capucine Picard; Shen-Ying Zhang; Huey-Hsuan Chang; Kun Yang; Maya Chrabieh; Andrew C Issekutz; Coleen K Cunningham; John Gallin; Steven M Holland; Chaim Roifman; Stephan Ehl; Joanne Smart; Mimi Tang; Franck J Barrat; Ofer Levy; Douglas McDonald; Noorbibi K Day-Good; Richard Miller; Hidetoshi Takada; Toshiro Hara; Sami Al-Hajjar; Abdulaziz Al-Ghonaium; David Speert; Damien Sanlaville; Xiaoxia Li; Frédéric Geissmann; Eric Vivier; László Maródi; Ben-Zion Garty; Helen Chapel; Carlos Rodriguez-Gallego; Xavier Bossuyt; Laurent Abel; Anne Puel; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2007-09-24       Impact factor: 14.307
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