Literature DB >> 16647421

Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency: rapid screening by flow cytometer.

Hidetoshi Takada1, Hideto Yoshikawa, Masue Imaizumi, Taro Kitamura, Junji Takeyama, Satoru Kumaki, Akihiko Nomura, Toshiro Hara.   

Abstract

We describe 2 siblings who had interleukin-1 receptor-associated kinase 4 deficiency with a novel mutation in exon 2. They had delayed separation of the umbilical cord. The flow cytometric analysis of monocytic intracellular tumor necrosis factor-alpha production in response to lipopolysaccharide may be a useful method to screen for the disease.

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Year:  2006        PMID: 16647421     DOI: 10.1016/j.jpeds.2005.12.015

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


  17 in total

Review 1.  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

2.  Unique activation status of peripheral blood mononuclear cells at acute phase of Kawasaki disease.

Authors:  K Ikeda; K Yamaguchi; T Tanaka; Y Mizuno; A Hijikata; O Ohara; H Takada; K Kusuhara; T Hara
Journal:  Clin Exp Immunol       Date:  2009-12-15       Impact factor: 4.330

3.  Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.

Authors:  Hidenori Ohnishi; Yuka Kishimoto; Tomohide Taguchi; Norio Kawamoto; Mina Nakama; Tomoki Kawai; Manabu Nakayama; Osamu Ohara; Kenji Orii; Toshiyuki Fukao
Journal:  J Clin Immunol       Date:  2017-07-12       Impact factor: 8.317

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.  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 7.  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

Review 8.  Clinical immunology review series: an approach to the patient with recurrent infections in childhood.

Authors:  M A Slatter; A R Gennery
Journal:  Clin Exp Immunol       Date:  2008-03-28       Impact factor: 4.330

9.  Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency.

Authors:  Anjali Singh; Kol A Zarember; Douglas B Kuhns; John I Gallin
Journal:  J Immunol       Date:  2009-05-15       Impact factor: 5.422

10.  Approach to the child with recurrent infections.

Authors:  Suzan A Alkhater
Journal:  J Family Community Med       Date:  2009-09
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