Associated Papers
Delayed Presentation of IRAK4 Deficiency.
Sacta MA et al.
Journal of Clinical Immunology, 2024
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency.
Verma N et al.
Journal of Clinical Immunology, 2023
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.
García-García A et al.
The Journal of Experimental Medicine, 2023
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Cooray S et al.
Frontiers in Immunology, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
Nishimura S et al.
Journal of Clinical Immunology, 2021
Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.
Jia A et al.
Cold Spring Harbor Molecular Case Studies, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Antinuclear Antibody-Positive Juvenile Idiopathic Arthritis Despite IRAK-4 Deficiency.
Hügle B et al.
Journal of Clinical Immunology, 2018
IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.
Gobin K et al.
Frontiers in Pediatrics, 2017
PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome.
Frans G et al.
Journal of Clinical Immunology, 2015
Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.
Paciolla M et al.
Genes and Immunity, 2015
Rare variants in MYD88, IRAK4 and IKBKG and susceptibility to invasive pneumococcal disease: a population-based case-control study.
Ellis MK et al.
Plos One, 2015
Liver abscess complicated by diaphragm perforation and pleural empyema leads to the discovery of interleukin-1 receptor-associated kinase 4 deficiency.
Schöndorf D et al.
The Pediatric Infectious Disease Journal, 2014
Functional assessment of the mutational effects of human IRAK4 and MyD88 genes.
Yamamoto T et al.
Molecular Immunology, 2014
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
Human primary immunodeficiencies causing defects in innate immunity.
Wong T et al.
Current Opinion in Allergy and Clinical Immunology, 2013
Even in pneumococcal sepsis CD62L shedding on granulocytes proves to be a reliable functional test for the diagnosis of interleukin-1 receptor-associated kinase-4 deficiency.
Andres O et al.
The Pediatric Infectious Disease Journal, 2013
Genetic variation in Toll-like receptors and disease susceptibility.
Netea MG et al.
Nature Immunology, 2012
A nonsynonymous polymorphism of IRAK4 associated with increased prevalence of gram-positive infection and decreased response to toll-like receptor ligands.
Sutherland AM et al.
Journal of Innate Immunity, 2011
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Picard C et al.
Medicine, 2010
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88.
He B et al.
Nature Immunology, 2010
Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients.
McDonald DR et al.
The Journal of Allergy and Clinical Immunology, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
The role of Toll-like receptor signaling in human immunodeficiencies.
Suhir H et al.
Clinical Reviews in Allergy & Immunology, 2010
Robust TLR4-induced gene expression patterns are not an accurate indicator of human immunity.
Brown KL et al.
Journal of Translational Medicine, 2010
Genetic polymorphisms and posttraumatic complications.
Gu W et al.
Comparative and Functional Genomics, 2010
Mutation analysis in primary immunodeficiency diseases: case studies.
Hsu AP et al.
Current Opinion in Allergy and Clinical Immunology, 2009
Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.
Krause JC et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2009
Polymorphisms in interleukin-1 receptor-associated kinase 4 are associated with total serum IgE.
Tewfik MA et al.
Allergy, 2009
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.
de Beaucoudrey L et al.
The Journal of Experimental Medicine, 2008
Cellular and humoral aberrations in a kindred with IL-1 receptor-associated kinase 4 deficiency.
Lavine E et al.
The Journal of Allergy and Clinical Immunology, 2007
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.
Ku CL et al.
Journal of Medical Genetics, 2007
IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells.
Davidson DJ et al.
Journal of Immunology (baltimore, Md. : 1950), 2006
Interleukin receptor-associated kinase-4 deficiency impairs Toll-like receptor-dependent innate antiviral immune responses.
McDonald DR et al.
The Journal of Allergy and Clinical Immunology, 2006
Regulations and roles of the interleukin-1 receptor associated kinases (IRAKs) in innate and adaptive immunity.
Gan L et al.
Immunologic Research, 2006
Cutting edge: expression of IL-1 receptor-associated kinase-4 (IRAK-4) proteins with mutations identified in a patient with recurrent bacterial infections alters normal IRAK-4 interaction with components of the IL-1 receptor complex.
Medvedev AE et al.
Journal of Immunology (baltimore, Md. : 1950), 2005
Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency: first association with a primary immune deficiency.
Chapel H et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2005
Inherited disorders of human Toll-like receptor signaling: immunological implications.
Ku CL et al.
Immunological Reviews, 2005
Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation.
Orange JS et al.
Immunological Reviews, 2005
Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections.
Medvedev AE et al.
The Journal of Experimental Medicine, 2003
Pyogenic bacterial infections in humans with IRAK-4 deficiency.
Picard C et al.
Science (new York, N.y.), 2003