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

The Journal of Pediatrics
Hidetoshi TakadaToshiro 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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Citations

Nov 9, 2010·Medicine·Capucine PicardJean-Laurent Casanova
Jul 8, 2011·Clinical Microbiology Reviews·Capucine PicardAnne Puel
Sep 5, 2006·Journal of Medical Genetics·Cheng-Lung KuJean-Laurent Casanova
Oct 6, 2007·Immunologic Research·Capucine PicardJean-Laurent Casanova
Jan 12, 2011·Annual Review of Immunology·Jean-Laurent CasanovaLluis Quintana-Murci
Nov 15, 2011·The Journal of Allergy and Clinical Immunology·Hidenori OhnishiNaomi Kondo
Dec 8, 2011·Journal of Infection and Chemotherapy : Official Journal of the Japan Society of Chemotherapy·Yoshiko UchidaTakashi Fukaya
Dec 30, 2015·Pediatrics International : Official Journal of the Japan Pediatric Society·Koichi ShichijoTsutomu Watanabe
Apr 22, 2008·Immunology and Allergy Clinics of North America·Jacinta BustamanteJean-Laurent Casanova
Dec 13, 2006·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Aaron F HirschfeldStuart E Turvey
Apr 1, 2008·Clinical and Experimental Immunology·M A Slatter, A R Gennery
Dec 21, 2012·European Journal of Immunology·Horst von BernuthJean-Laurent Casanova
Oct 12, 2013·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Motohiro EbisawaNaomi Kondo
Oct 12, 2013·Pediatrics International : Official Journal of the Japan Pediatric Society·Hidetoshi Takada
Dec 10, 2013·Molecular Immunology·Takahiro YamamotoNaomi Kondo
Dec 18, 2007·Current Opinion in Immunology·Jacinta BustamanteJean-Laurent Casanova
Jan 27, 2007·The EMBO Journal·Jean-Laurent Casanova, Laurent Abel
Jul 27, 2007·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Yi-Chan TsaiMing-Ling Kuo
May 6, 2009·The Journal of Immunology : Official Journal of the American Association of Immunologists·Anjali SinghJohn I Gallin
Jan 11, 2017·Proceedings of the National Academy of Sciences of the United States of America·Erika Della MinaAnne Puel
Jul 11, 2018·Annals of Clinical Microbiology and Antimicrobials·Sayaka OkuzonoShouichi Ohga
Nov 30, 2016·World Journal of Gastroenterology : WJG·Claudia LoganesElisa Piscianz
Oct 22, 2020·Journal of Clinical Immunology·Shiho NishimuraMasao Kobayashi
Oct 24, 2009·The Lancet Infectious Diseases·Esther van de VosseTom H M Ottenhoff
Dec 5, 2006·Pediatrics·Horst von BernuthJean-Laurent Casanova

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