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

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8K108E mutation

13 Aug 2014

Abstract excerpt

We have previously reported on a unique patient in whom homozygosity for a mutation at IRF8 (IRF8(K108E)) causes a severe immunodeficiency. Laboratory evaluation revealed a highly unusual myeloid compartment, remarkable for the complete absence of CD141 and CD161 monocytes, absence of CD11c1 conventional dendritic cells (DCs) and CD11c1/CD1231 plasmacytoid DCs, and striking granulocytic hyperplasia. The patient...

Read the complete abstract on PubMed

Topics

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

Share to Cytomegalovirus and herpesvirus research
Share to Immune Cell Function and Interaction
Share to Immunotherapy and Immune Responses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25122610
DOI: 10.1182/blood-2014-04-570879

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8K108E mutationPMID 25122610Read ↗

A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.Semantic proximity Read ↗

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation.Semantic proximity Read ↗

IRF8 mutations and human dendritic-cell immunodeficiency.Semantic proximity Read ↗

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.Semantic proximity Read ↗

Role of IRF8 in immune cells functions, protection against infections, and susceptibility to inflammatory diseases.Semantic proximity Read ↗

Loss of human ICOSL results in combined immunodeficiencySemantic proximity Read ↗

Biallelic IRF8 Mutations Causing NK Cell Deficiency.Semantic proximity Read ↗

Identification of a novel IRF8 homozygous mutation causing neutrophilia, monocytopenia and fatal infection in a female neonate.Semantic proximity Read ↗

A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.Semantic proximity Read ↗

Analysis of stop-gain and frameshift variants in human innate immunity genes.Semantic proximity Read ↗

Analysis of stop-gain and frameshift variants in human innate immunity genesSemantic proximity Read ↗

Biallelic mutations in IRF8 impair human NK cell maturation and function.Semantic proximity Read ↗

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