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Front Pediatr. 2017 Apr 28;5:83. doi: 10.3389/fped.2017.00083. eCollection 2017.

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

Author information

1
Division of Asthma, Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
2
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris, France.
3
Paris Descartes University, Paris, France.
4
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, New York, NY, USA.
5
Pediatric Hematology-Immunology Unit, Assistance Publique Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.
6
Center for the Study of Primary Immunodeficiencies AP-HP, Necker Hospital for Sick Children, Paris, France.
7
Howard Hughes Medical Institute, New York, NY, USA.
8
Division of Rheumatology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.

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.

KEYWORDS:

IRAK4 deficiency; IκBα; MYd88 deficiency; NF-κB; NF-κB essential modulator; toll-like receptors

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