IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature

Frontiers in Pediatrics
Karina GobinJames Verbsky

Abstract

Primary immunodeficiencies are genetic defects of the innate or adaptive immune system, resulting in a propensity to infections. The innate immune system is the first line of defense against pathogens and is critical to recognize microbes and start the inflammatory cascade. Sensing of microbes occurs by a number of pathogen-recognition receptors, resulting in the activation of inflammatory signal transduction pathways, such as the activation of NF-κB. Herein, we describe a case of IRAK4 deficiency, a key signal transduction molecule of toll-like and IL-1 receptors. We highlight the complexities in diagnosis of these disorders and review genetic defects of the NF-κB pathway.

References

Jan 22, 2004·Current Opinion in Immunology·Anne PuelJean-Laurent Casanova
Sep 5, 2006·Journal of Medical Genetics·Cheng-Lung KuJean-Laurent Casanova
Sep 16, 2006·Science·Armanda CasrougeJean-Laurent Casanova
Sep 18, 2007·Science·Shen-Ying ZhangJean-Laurent Casanova
Aug 2, 2008·Science·Horst von BernuthJean-Laurent Casanova
May 12, 2009·Clinical Reviews in Allergy & Immunology·Hanna Suhir, Amos Etzioni
Jun 12, 2010·The Journal of Allergy and Clinical Immunology·Daniel H ConwayKathleen E Sullivan
Nov 9, 2010·Medicine·Capucine PicardJean-Laurent Casanova
Jul 8, 2011·Clinical Microbiology Reviews·Capucine PicardAnne Puel
Nov 23, 2011·The Journal of Clinical Investigation·Vanessa Sancho-ShimizuJean-Laurent Casanova
Dec 27, 2013·The New England Journal of Medicine·Ulrich PannickeKlaus Schwarz
Apr 1, 2014·The Journal of Allergy and Clinical Immunology·Siobhan O BurnsSergey Nejentsev
Sep 14, 2014·Journal of Clinical Immunology·Christian NielsenTorben Barington

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Citations

May 21, 2018·Clinical and Experimental Dermatology·P GurungG W M Millington
May 1, 2018·Journal of Clinical Immunology·Boris HügleVolker Schuster
Jan 15, 2020·Human Genetics·Alessandro BorghesiJacques Fellay
Jul 18, 2019·Journal of Leukocyte Biology·Mahdis MonajemiLaura M Sly
Jun 14, 2020·Cold Spring Harbor Molecular Case Studies·Alicia JiaStuart E Turvey
Sep 7, 2018·Genes and Immunity·Brigitte GlanzmannCraig J Kinnear
Apr 8, 2020·Expert Opinion on Investigational Drugs·Michael D WieseAhmad Y Abuhelwa
Oct 27, 2020·Case Reports in Immunology·Panagiota KarananouEfimia Papadopoulou-Alataki
Jun 25, 2021·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Jessica Y TongKrishna Tumuluri
Aug 22, 2021·Clinical Reviews in Allergy & Immunology·Nicole Akar-Ghibril

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