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

Overview

Journal Front Pediatr

Specialty Pediatrics

Date 2017 May 16

PMID 28503543

Citations 7

Authors

Karina Gobin

Mary Hintermeyer

Bertrand Boisson

Maya Chrabieh

Pegah Ghandil

Anne Puel

Capucine Picard

Jean-Laurent Casanova

John Routes

James Verbsky

Affiliations

Soon will be listed here.

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.

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