Frontiers in Pediatrics (Apr 2017)
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature
- Karina Gobin,
- Mary Hintermeyer,
- Bertrand Boisson,
- Bertrand Boisson,
- Bertrand Boisson,
- Maya Chrabieh,
- Maya Chrabieh,
- Pegah Ghandil,
- Pegah Ghandil,
- Pegah Ghandil,
- Pegah Ghandil,
- Anne Puel,
- Anne Puel,
- Capucine Picard,
- Capucine Picard,
- Capucine Picard,
- Capucine Picard,
- Jean-Laurent Casanova,
- Jean-Laurent Casanova,
- Jean-Laurent Casanova,
- Jean-Laurent Casanova,
- Jean-Laurent Casanova,
- Jean-Laurent Casanova,
- John Routes,
- James Verbsky
Affiliations
- Karina Gobin
- Division of Asthma, Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA
- Mary Hintermeyer
- Division of Asthma, Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA
- Bertrand Boisson
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris, France
- Bertrand Boisson
- Paris Descartes University, Paris, France
- Bertrand Boisson
- St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, New York, NY, USA
- Maya Chrabieh
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris, France
- Maya Chrabieh
- Paris Descartes University, Paris, France
- Pegah Ghandil
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris, France
- Pegah Ghandil
- Paris Descartes University, Paris, France
- Pegah Ghandil
- Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
- Pegah Ghandil
- Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
- Anne Puel
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris, France
- Anne Puel
- Paris Descartes University, Paris, France
- Capucine Picard
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris, France
- Capucine Picard
- Paris Descartes University, Paris, France
- Capucine Picard
- Pediatric Hematology-Immunology Unit, Assistance Publique Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France
- Capucine Picard
- Center for the Study of Primary Immunodeficiencies AP-HP, Necker Hospital for Sick Children, Paris, France
- Jean-Laurent Casanova
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris, France
- Jean-Laurent Casanova
- Paris Descartes University, Paris, France
- Jean-Laurent Casanova
- St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, New York, NY, USA
- Jean-Laurent Casanova
- Pediatric Hematology-Immunology Unit, Assistance Publique Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France
- Jean-Laurent Casanova
- Center for the Study of Primary Immunodeficiencies AP-HP, Necker Hospital for Sick Children, Paris, France
- Jean-Laurent Casanova
- Howard Hughes Medical Institute,New York, NY, USA
- John Routes
- Division of Asthma, Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA
- James Verbsky
- 0Division of Rheumatology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA
- DOI
- https://doi.org/10.3389/fped.2017.00083
- Journal volume & issue
-
Vol. 5
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
