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Identification of a heterozygous pathogenic variant in IRAK4 in an adult patient with pneumococcal sepsis, monoclonal gammopathy of uncertain significance, and idiopathic systemic capillary leak syndrome.
J Allergy Clin Immunol Glob
August 2023
Division of Allergy & Clinical Immunology, Department of Medicine, National Jewish Health, Denver, Colorado, USA.
IRAK-4 haploinsufficiency can present with pneumococcal sepsis and poor pneumococcal vaccine response in adults. Further research can determine the significance of unrecognized pathogenic variants in in adults presenting with pneumococcal sepsis and the utility of immunoglobulin replacement in these patients.
View Article and Find Full Text PDFIgG4-related disease of the orbit in an infant.
J AAPOS
August 2021
Department of Ophthalmology, The Children's Hospital at Westmead, NSW, Australia; Save Sight Institute, Sydney Medical School, Faculty of Medicine and Health, The University of Sydney.
IgG4-related disease is a chronic fibroinflammatory disorder that is becoming increasingly recognized in the pediatric population. The orbit is one of the most commonly affected sites. We present the youngest case of IgG4-related ophthalmic disease in the literature, with an immunodeficiency phenotype associated with a homozygous IRAK-4 variant gene.
View Article and Find Full Text PDFInterleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager.
Case Reports Immunol
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4th Department of Paediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece.
Background: Human interleukin- (IL-) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently described primary immunodeficiency. It is a rare, autosomal recessive immunodeficiency that impairs toll/IL-1R immunity, except for the toll-like receptor (TLR) 3- and TLR4-interferon alpha (IFNA)/beta (IFNB) pathways. .
View Article and Find Full Text PDFBackground/aim: Abnormal immune response occurs in individuals who have alleles associated with innate and adaptive immune mechanisms that predispose to inflammatory bowel disease (IBD). Interleukin-1 receptor-associated kinase 4 (IRAK-4) involved in the pathway produces cytokines that initiate and maintain inflammation through Toll-like receptors and interleukin-1 receptors on the membranes of innate immune cells are stimulated with antigens. It was aimed to investigate whether IRAK-4 rs3794262 and rs4251481 polymorphisms predispose to IBD and the possible effects of these polymorphisms by examining these gene polymorphisms with the clinic and prognostic parameters of IBD.
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Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, İstanbul University; İstanbul-Turkey.
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