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

JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.

Journal of clinical immunology - 1 May 2015

Baris S, Karakoc-Aydiner E, Ozen A, Delil K, Kiykim A, Ogulur I, Baris I, Barlan I B

Abstract excerpt

Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by abnormality in endoplasmic reticulum structure, absence of granules, abnormal N-glycosylation of proteins and susceptibility to apoptosis. These findings imply the role of JAGN1 in...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Bone Marrow Failure Syndromes
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Infant

Share to Membrane Proteins

Share to Mutation, Missense

Share to Neutropenia

Share to Siblings

Source

Identifiers

PMID: 25851723
DOI: 10.1007/s10875-015-0156-2

Genes

JAGN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.PMID 25851723Read ↗

A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.Semantic proximity Read ↗

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.Semantic proximity Read ↗

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.Semantic proximity Read ↗

JAGN1 mutation with distinct clinical features; two case reports and literature review.Semantic proximity Read ↗

A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation.Semantic proximity Read ↗

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.Semantic proximity Read ↗

JAGN1 mutations in severe congenital neutropenia.Semantic proximity Read ↗

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.Semantic proximity Read ↗

Congenital neutropeniaSemantic proximity Read ↗

Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia.Semantic proximity Read ↗

Severe congenital neutropenias.Semantic proximity Read ↗

Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders.Semantic proximity Read ↗

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