Dataset Information

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

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-?B. 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-?B pathway.

SUBMITTER: Gobin K

PROVIDER: S-EPMC5408006 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Publications

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

Gobin Karina K Hintermeyer Mary M Boisson Bertrand B Chrabieh Maya M Ghandil Pegah P Puel Anne A Picard Capucine C Casanova Jean-Laurent JL Routes John J Verbsky James J

Frontiers in pediatrics 20170428

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 deficien ...[more]

PMID: 28503543

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Project description:BackgroundLigneous periodontitis or destructive membranous periodontal disease is a rare condition involving gingival tissues, which is due to plasminogen deficiency and fibrin deposition. Plasminogen deficiency is an ultrarare autosomal recessive disease. The disease is characterized by gingival enlargement and periodontal tissue destruction that leads to rapid tooth loss despite treatment attempts. A defect in fibrinolysis and abnormal wound healing are the main pathogenesis of this condition. It is caused by mutations in PLG, the gene coding for plasminogen, which results in decreased levels and functional activity. Case Presentation. In this case report, clinical and histopathological findings of a 26-year-old male patient who presented with generalized membranous gingival enlargement are presented. He was the third child of consanguineous parents and had multicystic congenital hydrocephalus at birth. Besides the gingival enlargement, he also presented ligneous conjunctivitis since childhood. The intraoral examination revealed generalized periodontal breakdown. Radiographs showed alveolar bone loss present in every quadrant. All blood investigations were normal except for plasminogen deficiency. A biopsy sample was excised from affected gingiva and a series of histopathological evaluation was performed. Based on clinical and histopathological evidence, a diagnosis of destructive membranous periodontal disease or ligneous periodontitis was made. A clinical exome assay for the PLG gene was also done. It was confirmed as Type 1 plasminogen deficiency.ConclusionLigneous periodontitis has been rarely reported in India. The reasons could be because of the rarity of the disease or missed diagnosis. The need to take a proper history and perform a proper clinical examination and histopathologic evaluation has to be stressed when diagnosing and treating gingival enlargements. If a genetic condition is suspected, genetic screening is also needed. All these will help the clinician in correctly diagnosing the disease and formulating a proper treatment plan for managing the condition.

Dataset Information

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

Publications

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

Similar Datasets

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