Associated Papers
A nephritic puzzle: C3-dominant glomerulonephritis as a sentinel of hidden autoinflammatory disease.
Ward RC et al.
Pediatric Nephrology (berlin, Germany), 2026
Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.
Yang Y et al.
The British Journal of Dermatology, 2026
A Diagnostic Challenge: Recurrent Uveitis Leading to the Diagnosis of Hyper-IgD Syndrome in a 28-Year-Old Patient.
Salvo Jiménez J et al.
Ocular Immunology and Inflammation, 2026
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Rare Coexistence of Hidradenitis Suppurativa and Hyper-IgD Syndrome With Homozygous MVK V377I and Compound Heterozygous MEFV (M680I/E148Q) Mutations.
Tas-Aygar G et al.
Pediatric Dermatology, 2025
Dysregulation of inflammasomes in autoinflammatory diseases.
Hou C et al.
Joint Bone Spine, 2025
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder.
Iturrate A et al.
European Journal of Human Genetics : Ejhg, 2025
Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.
Kılıç Könte E et al.
The Turkish Journal of Pediatrics, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Guan C et al.
Pediatric Rheumatology Online Journal, 2025
Genetic Basis of Autoinflammatory Skin Diseases. Part I. Genetic Pathways of Complex Autoinflammatory Skin Diseases.
Burke OM et al.
Journal of the American Academy of Dermatology, 2025
The same genotype gives rise to a spectrum of disorders.
Yao Q
The Lancet. Rheumatology, 2025
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke-characterization of a novel genetic variant.
Hamidi LN et al.
Frontiers in Immunology, 2025
Case Report: Clinical application of an in vitro prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel MVK variant.
Burleigh A et al.
Frontiers in Pediatrics, 2025
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
Amyloidosis in Childhood: A Review of Clinical Features and Comparison with Adult Forms.
Zamarra GB et al.
Journal of Clinical Medicine, 2024
Insights into the multifaceted role of interleukin-37 on human immune cell regulation.
Teufel LU et al.
Clinical Immunology (orlando, Fla.), 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Genetic and epigenetic dysregulation of innate immune mechanisms in autoinflammatory diseases.
Merlo Pich LM et al.
The Febs Journal, 2024
Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.
Kuzmenko N et al.
Journal of Clinical Immunology, 2024
Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.
Eslamian G et al.
Clinical and Experimental Immunology, 2024
Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.
Niewold TB et al.
Nature Reviews. Rheumatology, 2024
A case report of Hyper-IgD syndrome in a 5-year-old girl with recurrent fever, skin rash, and arthralgia; novel MVK mutation (C.298G>A).
Tabibi P et al.
Clinical Case Reports, 2024
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.
Nurmi K et al.
Cell Reports. Medicine, 2024
Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome.
Politiek FA et al.
Journal of Inherited Metabolic Disease, 2024
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review.
Li Y et al.
Pediatric Rheumatology Online Journal, 2024
Adhesive small-bowel obstruction as a challenging complication of familial Mediterranean fever: A case-based review.
Küçükali B et al.
International Journal of Rheumatic Diseases, 2024
Long-term efficacy of canakinumab in hyperimmunoglobulin D syndrome.
Ozdemir Isik O et al.
International Journal of Rheumatic Diseases, 2024
Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.
Politiek FA et al.
Frontiers in Immunology, 2024
Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases.
Fonollosa A et al.
Frontiers in Ophthalmology, 2024
Systemic autoinflammatory disease, IgA glomerulonephritis and renal cortical necrosis: coincidence or causation?
Chiurchiu C et al.
Medicina, 2024
Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.
Lengvári L et al.
Frontiers in Immunology, 2024
Evaluating the prevalence of inborn errors of immunity in adults with chronic immune thrombocytopenia or Evans syndrome.
Jiang D et al.
Blood Advances, 2023
A case of neonatal sweet syndrome associated with mevalonate kinase deficiency.
Irwin M et al.
Pediatric Rheumatology Online Journal, 2023
Renal involvement in monogenic autoinflammatory diseases: A narrative review.
La Bella S et al.
Nephrology (carlton, Vic.), 2023
The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort.
Çağlayan Ş et al.
Clinical Rheumatology, 2023
Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study.
Yıldız F et al.
Archives of Rheumatology, 2023
Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.
Kışla Ekinci RM et al.
Archives of Rheumatology, 2023
Management of patients with hidradenitis suppurativa having underlying genetic variation: a systematic review and a call for precision medicine.
Mintoff D et al.
Clinical and Experimental Dermatology, 2023
Successful treatment with anakinra in generalized spiculated porokeratosis and severe hidradenitis suppurativa in a patient with MVK and MEFV mutations.
Oktem A et al.
Clinical and Experimental Dermatology, 2023
Recurrent macrophage activation syndrome due to hyperimmunoglobulin D syndrome: a case-based review.
Gezgin Yıldırım D et al.
Clinical Rheumatology, 2023