Article

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced Inflammation

2022-03-03

Abstract excerpt

<title>Abstract</title> <p><bold>Purpose</bold> Besides their developmental and neurological phenotype, most patients with <italic>MECP2/IRAK1</italic> duplication syndrome present with recurrent and severe infections, accompanied by strong inflammation. Respiratory infections are the most common cause of death. Standardized pneumological diagnostics, targeted anti-infectious treatment and knowledge of the underl...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 678daf39-f992-5c0a-bc23-dca0154c3128
DOI: 10.21203/rs.3.rs-1389483/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced InflammationDOI 10.21203/rs.3.rs-1389483/v1Read

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced InflammationSemantic proximity Read

IRAK2 deficiency causes a new immune dysregulation disorderSemantic proximity Read

An unusual case of RIPK1-related immunodeficiency: The importance of a timely diagnosis for a novel clinical and therapeutic pattern.Semantic proximity Read

Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.Semantic proximity Read

Mendelian diseases of dysregulated canonical NF-κB signaling: From immunodeficiency to inflammation.Semantic proximity Read

Nuclear Factor Kappa B (NF-κB)1 and NF-κB2 Deficiency: An Unpredictable Defect With Wide Clinical and Immunologic Phenotype.Semantic proximity Read

NLRC4 inflammasomopathies.Semantic proximity Read

Novel RIPK1 Mutations Causing Infantile-onset IBD with Inflammatory and Fistulizing FeaturesSemantic proximity Read

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.Semantic proximity Read

A Complex Infectious, Inflammatory, and Autoimmune Phenotype Reveals 22q11.2 Deletion Syndrome in an Adult.Semantic proximity Read

Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.Semantic proximity Read

Deficiency of Interleukin-1 Receptor Antagonist Due to Novel IL1RN Pathogenic Variants: A 40 Year-Long Journey Until Its DiagnosisSemantic proximity Read