ArticleThe Journal of allergy and clinical immunology2015
Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum.
Article in The Journal of allergy and clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 23 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Investigation of Reduced Interferon Responses in Peripheral Blood Mononuclear Cells of Participants With Atopic Dermatitis and a History of Eczema Herpeticum (ADRN-01)
Registry for the Atopic Dermatitis Research Network (ADRN-02)
Who cites it
23 citing papers in PubMed, 3 syntheses or guidelines pooled it, 47 citations in OpenAlex.
- Biomarkers associated with the development of comorbidities in patients with atopic dermatitis: A systematic review.Allergy · 2023Pooled it
- Classifying atopic dermatitis: a systematic review of phenotypes and associated characteristics.Journal of the European Academy of Dermatology and Venereology : JEADV · 2022Pooled it
- The microbiome in allergic disease: Current understanding and future opportunities-2017 PRACTALL document of the American Academy of Allergy, Asthma & Immunology and the European Academy of Allergy and Clinical Immunology.The Journal of allergy and clinical immunology · 2017Guideline
- Integrated Safety Update of Abrocitinib in 3802 Patients with Moderate-to-Severe Atopic Dermatitis: Data from More than 5200 Patient-Years with Up to 4 Years of Exposure.American journal of clinical dermatology · 2024Trial
- Rapid reduction in Staphylococcus aureus in atopic dermatitis subjects following dupilumab treatment.The Journal of allergy and clinical immunology · 2023Trial
- TThe Journal of allergy and clinical immunology · 2024Review
- Novel Janus Kinase Inhibitors in the Treatment of Dermatologic Conditions.Molecules (Basel, Switzerland) · 2023Review
- Inborn Errors of Immunity Predisposing to Herpes Simplex Virus Infections of the Central Nervous System.Pathogens (Basel, Switzerland) · 2023Review
- The Genetics of Eczema Herpeticum.Clinical reviews in allergy & immunology · 2022Review
- Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.Frontiers in genetics · 2022Article
- Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry.Frontiers in immunology · 2022Article
- Multiethnic genome-wide and HLA association study of total serum IgE level.The Journal of allergy and clinical immunology · 2021Article
- Whole genome sequencing identifies novel genetic mutations in patients with eczema herpeticum.Allergy · 2021Article
- Infections in Dupilumab Clinical Trials in Atopic Dermatitis: A Comprehensive Pooled Analysis.American journal of clinical dermatology · 2019Article
- Emerging Topical and Systemic JAK Inhibitors in Dermatology.Frontiers in immunology · 2019Review
- Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.Journal of thoracic disease · 2018Article
- Innate Antiviral Immunity in the Skin.Trends in immunology · 2018Review
- Germline hypomorphic CARD11 mutations in severe atopic disease.Nature genetics · 2017Article
- Effects of Allergic Sensitization on Antiviral Immunity: Allergen, Virus, and Host Cell Mechanisms.Current allergy and asthma reports · 2017Review
- Clinical implications of new mechanistic insights into atopic dermatitis.Current opinion in pediatrics · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 8 institutions in 1 country.
Funding
Abstract
backgroundA subset of atopic dermatitis is associated with increased susceptibility to eczema herpeticum (ADEH+). We previously reported that common single nucleotide polymorphisms (SNPs) in the IFN-γ (IFNG) and IFN-γ receptor 1 (IFNGR1) genes were associated with the ADEH+ phenotype.
objectiveWe sought to interrogate the role of rare variants in interferon pathway genes for the risk of ADEH+.
methodsWe performed targeted sequencing of interferon pathway genes (IFNG, IFNGR1, IFNAR1, and IL12RB1) in 228 European American patients with AD selected according to their eczema herpeticum status, and severity was measured by using the Eczema Area and Severity Index. Replication genotyping was performed in independent samples of 219 European American and 333 African American subjects. Functional investigation of loss-of-function variants was conducted by using site-directed mutagenesis.
resultsWe identified 494 single nucleotide variants encompassing 105 kb of sequence, including 145 common, 349 (70.6%) rare (minor allele frequency <5%), and 86 (17.4%) novel variants, of which 2.8% were coding synonymous, 93.3% were noncoding (64.6% intronic), and 3.8% were missense. We identified 6 rare IFNGR1 missense variants, including 3 damaging variants (Val14Met [V14M], Val61Ile, and Tyr397Cys [Y397C]) conferring a higher risk for ADEH+ (P = .031). Variants V14M and Y397C were confirmed to be deleterious, leading to partial IFNGR1 deficiency. Seven common IFNGR1 SNPs, along with common protective haplotypes (2-7 SNPs), conferred a reduced risk of ADEH+ (P = .015-.002 and P = .0015-.0004, respectively), and both SNP and haplotype associations were replicated in an independent African American sample (P = .004-.0001 and P = .001-.0001, respectively).
conclusionOur results provide evidence that both genetic variants in the gene encoding IFNGR1 are implicated in susceptibility to the ADEH+ phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.