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

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation

14 Oct 2024

Abstract excerpt

Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss of heterozygosity (LOH) via uniparental isodisomy. We observed an upregulation of the inflammatory gene expression signature in whole blood from these patients, mimicking monogenic inborn...

Read the complete abstract on PubMed

Topics

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

Share to Acute Myeloid Leukemia Research
Share to Eosinophilic Disorders and Syndromes
Share to Myeloproliferative Neoplasms: Diagnosis and Treatment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39403923
DOI: 10.1172/jci181604

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

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activationPMID 39403923Read ↗

Using genetic and genomic approaches to understand haematopoietic cellular biology and dysregulation in diseaseSemantic proximity Read ↗

Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.Semantic proximity Read ↗

Reduced serpinB9-mediated caspase-1 inhibition can contribute to autoinflammatory disease.Semantic proximity Read ↗

Role of CBL Mutations in Cancer and Non-Malignant PhenotypeSemantic proximity Read ↗

The homozygous CX3CR1-M280 mutation impairs human monocyte survival.Semantic proximity Read ↗

Linkage of Metabolic Defects to Activated PIK3CA Alleles in Endothelial Cells Derived from Lymphatic Malformation.Semantic proximity Read ↗

Bone marrow-derived myeloid progenitors as driver mutation carriers in high- and low-risk Langerhans cell histiocytosis.Semantic proximity Read ↗

Mutations of c-Cbl in myeloid malignancies.Semantic proximity Read ↗

CBL-Mutated Juvenile Myelomonocytic Leukaemia With Loss of Heterozygosity on 11q Detected by Microarray: Not Always Such a Favourable Outcome.Semantic proximity Read ↗

L-plastin associated syndrome of immune deficiency and hematologic cytopenia.Semantic proximity Read ↗

Transient immune deficiency accompanied with homozygous CBL rare variant.Semantic proximity Read ↗

Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses.Semantic proximity Read ↗

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