Associated Papers
Reply to Bousdar et al.: Common inherited loss-of-function mutations in the innate sensor NOD2 contribute to exceptional immune response to cancer immunotherapy.
Barnet MB et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Contrasting outcomes of inherited NOD2 loss-of-function variants on immunotherapy response in cancer.
Bousdar N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Genital Crohn's disease in pediatrics and genetic associations.
Chang E et al.
Jpgn Reports, 2025
Genetic Mutations and Small Bowel Ulcerating Disease: Role in Diagnosis?
Modi R et al.
Current Gastroenterology Reports, 2025
NOD2 and Crohn's Disease Clinical Practice: From Epidemiology to Diagnosis and Therapy, Rewired.
Kayali S et al.
Inflammatory Bowel Diseases, 2025
Hereditary Alpha Tryptasemia: Survey of Concomitant Genetic Testing.
Butterfield JH et al.
International Archives of Allergy and Immunology, 2025
Germline polymorphisms of the NOD2 pathway may predict the effectiveness of radioiodine in differentiated thyroid cancer treatment.
Borowczyk M et al.
Journal of Endocrinological Investigation, 2024
Spectrum of inflammatory manifestations in patients with nucleotide-binding oligomerization domain containing 2 high-risk alleles.
Lozano-Chinga MM et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2024
Severe Features of Systemic Juvenile Idiopathic Arthritis in Patients With Congenital Heart Disease.
Aires BP et al.
The Journal of Rheumatology, 2024
Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.
Szuman M et al.
International Journal of Molecular Sciences, 2024
Genetic factors associated with hidradenitis suppurativa, a literature review.
Eble SM et al.
International Journal of Women's Dermatology, 2024
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
NOD2 in Crohn's Disease-Unfinished Business.
Ashton JJ et al.
Journal of Crohn's & Colitis, 2023
Corneal Ulcers with NOD2 Mutations Presenting with Mixed Syndromic Phenotype.
Schofield TS et al.
Ocular Immunology and Inflammation, 2023
Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.
Jafarpour S et al.
Journal of Neurology, 2022
The role of NOD2 in intestinal immune response and microbiota modulation: A therapeutic target in inflammatory bowel disease.
Liu Z et al.
International Immunopharmacology, 2022
Nucleotide oligomerization domain polymorphism confers no risk to Guillain-Barré syndrome.
Hayat S et al.
Acta Neurologica Scandinavica, 2022
Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation.
Berger K et al.
Journal of Personalized Medicine, 2022
Germline Alterations in Patients With IBD-associated Colorectal Cancer.
Biscaglia G et al.
Inflammatory Bowel Diseases, 2022
Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation.
Marzano AV et al.
Dermatology (basel, Switzerland), 2022
Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnostic and Treatment Challenge.
Gebeyehu NA et al.
Case Reports in Infectious Diseases, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
Crohn's Disease Susceptibility and Onset Are Strongly Related to Three NOD2 Gene Haplotypes.
Kaczmarek-Ryś M et al.
Journal of Clinical Medicine, 2021
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.
Horowitz JE et al.
Scientific Reports, 2021
Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
Rama M et al.
Clinical and Experimental Immunology, 2021
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Missense (p.Glu778Lys) and (p.Gly908Arg) variants of NOD2 gene are associated with recurrent pulmonary non-tuberculous mycobacterial infections.
Gonzalez-Mancera MS et al.
Scandinavian Journal of Immunology, 2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.
Ashton JJ et al.
Clinical and Translational Gastroenterology, 2020
Genetic polymorphisms present in IL10, IL23R, NOD2, and ATG16L1 associated with susceptibility to inflammatory bowel disease in Mexican population.
Quiroz-Cruz S et al.
European Journal of Gastroenterology & Hepatology, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Vidmar L et al.
Scientific Reports, 2019
Bronchiolitis obliterans after allogeneic hematopoietic stem cell transplantation: The effect of NOD2/CARD15 mutations in a Tunisian population.
Touihri M et al.
Human Immunology, 2019
Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.
Lipinski S et al.
Cold Spring Harbor Molecular Case Studies, 2019
Genotype-Serotype Interactions Shed Light on Genetic Components of Inflammatory Bowel Diseases.
Ben-Shachar S et al.
Inflammatory Bowel Diseases, 2019
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.
Germer EL et al.
Frontiers in Neurology, 2019
G908R NOD2 variant in a family with sarcoidosis.
Besnard V et al.
Respiratory Research, 2018
Influence of NOD2 Variants on Trichuris suis ova Treatment Outcome in Crohn's Disease.
Jaeger SU et al.
Frontiers in Pharmacology, 2018
NOD2/CARD15 gene polymorphisms and sarcoidosis susceptibility: review and meta-analysis.
Chen X et al.
Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of Wasog, 2018
Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).
Marzano AV et al.
The British Journal of Dermatology, 2017
Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.
Andreoletti G et al.
Scientific Reports, 2017
Genetic alterations in necrotizing enterocolitis.
Cuna A et al.
Seminars in Perinatology, 2017
Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases.
Savic S et al.
Rmd Open, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA et al.
Clinical Immunology (orlando, Fla.), 2015
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.
Taylan F et al.
The Journal of Allergy and Clinical Immunology, 2015
Donor Nucleotide-Binding Oligomerization-Containing Protein 2 (NOD2) Single Nucleotide Polymorphism 13 Is Associated with Septic Shock after Allogeneic Stem Cell Transplantation.
Grube M et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2015
Prediction of Crohn's disease aggression through NOD2/CARD15 gene sequencing in an Australian cohort.
Bhullar M et al.
World Journal of Gastroenterology, 2014