Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

2 Nov 2022

Abstract excerpt

PURPOSE: Besides their developmental and neurological phenotype, most patients with MECP2/IRAK1 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 underlying pathomechanism that triggers strong inflammation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Diaphragmatic Hernia Studies
Share to Inflammasome and immune disorders
Share to NF-κB Signaling Pathways

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36319802
DOI: 10.1007/s10875-022-01390-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced InflammationPMID 36319802Read ↗

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

NLRC4 inflammasomopathies.Semantic proximity Read ↗

IRAK2 deficiency causes a new immune dysregulation disorderSemantic proximity Read ↗

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.Semantic proximity Read ↗

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

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.Semantic proximity Read ↗

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

Inherited disorders of human Toll-like receptor signaling: immunological implications.Semantic proximity Read ↗

Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulationSemantic proximity Read ↗

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.