IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature
Year: 2017
Type: article
Study design: Case Report
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.
Source: Frontiers in Pediatrics
Institutions: Medical College of Wisconsin, Inserm, Human Genetic of Infectious Diseases, Institut des Maladies Génétiques Imagine, Université Paris Descartes, Ahvaz Jundishapur University of Medical Sciences, Hôpital Necker-Enfants Malades, Assistance Publique – Hôpitaux de Paris, Howard Hughes Medical Institute
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,801
Funder: National Institutes of Health
OpenAlex ID: W2609357089