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

Case Report: Severe neonatal lupus in an infant with homozygous NCF1 p.Arg90His variant and a der(14)t(4;14) translocation.

Frontiers in immunology - 1 Jan 2026

Yu Xiaojing, Lou Jiwu, Zhong Yuli, Zhang Lan

Abstract excerpt

Neonatal lupus erythematosus (NLE) is a rare, passively acquired autoimmune disease. The manifestations of NLE are varied, and the outcomes of the majority of cases result in spontaneous resolution. However, severe cases are limited. Emerging evidence highlights the genetic heterogeneity of NLE. The missense variant p.Arg90His in NCF1 has been demonstrated to be associated with autoimmune diseases, including...

Read the complete abstract on PubMed

Topics

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

Share to Homozygote
Share to Infant
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Lupus Erythematosus, Systemic

Share to Mutation, Missense

Share to NADPH Oxidases

Share to Phenotype

Share to Translocation, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 42183258
DOI: 10.3389/fimmu.2026.1815781
PMCID: PMC13194358

Genes

NCF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 28 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case Report: Severe neonatal lupus in an infant with homozygous NCF1 p.Arg90His variant and a der(14)t(4;14) translocation.PMID 42183258Read ↗

A truncating ELF4 variant in a pediatric patient with autoinflammatory disease and cell type-specific immune alterations.Semantic proximity Read ↗

Neonatal leukaemiaSemantic proximity Read ↗

[Polymorphism and differential diagnosis of neonatal lupus erythematosus].Semantic proximity Read ↗

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases.Semantic proximity Read ↗

Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus.Semantic proximity Read ↗

A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases.Semantic proximity Read ↗

Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature reviewSemantic proximity Read ↗

Geoepidemiology and clinical characteristics of neonatal lupus erythematosus: a systematic literature review of individual patients’ dataSemantic proximity Read ↗

Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.Semantic proximity Read ↗

Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation.Semantic proximity Read ↗

Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.Semantic proximity Read ↗

De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1 / TRAF4 Complex in Toll‐like Receptor 7 ActivationSemantic proximity Read ↗

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