Found: 29
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Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Hidradenitis Suppurativa: Proposal of Classification in Two Endotypes with Two-Step Cluster Analysis.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Early‐onset recurrent panniculitis as a phenotype of NLRC4‐associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445ProNLRC4 variant.
- Published in:
- Australasian Journal of Dermatology, 2023, v. 64, n. 2, p. 260, doi. 10.1111/ajd.14005
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- Publication type:
- Article
Baseline correlations and prognostic impact of serum monoclonal proteins in follicular lymphoma.
- Published in:
- British Journal of Haematology, 2021, v. 193, n. 2, p. 299, doi. 10.1111/bjh.17138
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- Publication type:
- Article
Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism--UK Single Center Experience.
- Published in:
- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01410
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- Publication type:
- Article
Inherited prion disease with 4-octapeptide repeat insertion linked to valine at codon 129.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 4, p. e212, doi. 10.1093/brain/awr358
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- Publication type:
- Article
Comment on: Effective ex vivo inhibition of cryopyrin-associated periodic syndrome (CAPS)-associated mutant NLRP3 inflammasome by MCC950/CRID3: Reply.
- Published in:
- 2023
- By:
- Publication type:
- Letter to the Editor
Effective ex vivo inhibition of cryopyrin-associated periodic syndrome (CAPS)-associated mutant NLRP3 inflammasome by MCC950/CRID3.
- Published in:
- Rheumatology, 2022, v. 61, n. 10, p. e299, doi. 10.1093/rheumatology/keac273
- By:
- Publication type:
- Article
Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.
- Published in:
- Rheumatology, 2014, v. 53, n. 6, p. 1095, doi. 10.1093/rheumatology/ket486
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- Publication type:
- Article
Acquired Cold Urticaria vs. Autoinflammatory Diseases, Genetic and Clinical Profile and Differential Diagnosis: Study of a Cohort of Patients in a Tertiary Reference Centre.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 12, p. 1071, doi. 10.2340/00015555-3292
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- Publication type:
- Article
Impact of Evolving Pattern in Early Progression of Patients With Smoldering Multiple Myeloma.
- Published in:
- Clinical Lymphoma, Myeloma & Leukemia, 2017, v. 17, p. e23, doi. 10.1016/j.clml.2017.03.040
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- Publication type:
- Article
Prognostic Impact of Serum Heavy/Light Chain Pairs in Patients With Monoclonal Gammopathy of Undetermined Significance and Smoldering Myeloma: Long-Term Results From a Single Institution.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Correction to: Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1421, doi. 10.1007/s10875-022-01298-2
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- Publication type:
- Article
Publisher Correction: Assessment of the gene mosaicism burden in blood and its implications for immune disorders.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Assessment of the gene mosaicism burden in blood and its implications for immune disorders.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-92381-y
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- Publication type:
- Article
Familial Mediterranean fever in the pediatric population.
- Published in:
- Allergologia & Immunopathologia, 2022, v. 50, n. 1, p. 25, doi. 10.15586/aei.v50i1.446
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- Publication type:
- Article
Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.
- Published in:
- Arthritis & Rheumatology, 2016, v. 68, n. 12, p. 3035, doi. 10.1002/art.39770
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- Publication type:
- Article
Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.
- Published in:
- Arthritis & Rheumatology, 2016, v. 68, n. 8, p. 2044, doi. 10.1002/art.39683
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- Publication type:
- Article
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.
- Published in:
- Arthritis & Rheumatology, 2016, v. 68, n. 4, p. 1039, doi. 10.1002/art.39519
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- Publication type:
- Article
Brief Report: Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome.
- Published in:
- Arthritis & Rheumatology, 2014, v. 66, n. 1, p. 197, doi. 10.1002/art.38217
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- Publication type:
- Article
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency.
- Published in:
- Pediatric Blood & Cancer, 2013, v. 60, n. 7, p. E29, doi. 10.1002/pbc.24499
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- Publication type:
- Article
IL-12 Rβ1 Deficiency: Mutation Update and Description of the IL12 RB1 Variation Database.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1329, doi. 10.1002/humu.22380
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- Publication type:
- Article
Clues to management of neonatally diagnosed BTK deficiency.
- Published in:
- Pediatric Allergy & Immunology, 2016, v. 27, n. 4, p. 428, doi. 10.1111/pai.12549
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- Publication type:
- Article
The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus.
- Published in:
- Human Mutation, 2004, v. 23, n. 4, p. 399, doi. 10.1002/humu.9229
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- Publication type:
- Article
I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?
- Published in:
- Human Mutation, 2002, v. 20, n. 2, p. 148, doi. 10.1002/humu.10103
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- Publication type:
- Article
A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation.
- Published in:
- Rheumatology International, 2008, v. 28, n. 4, p. 379, doi. 10.1007/s00296-007-0432-4
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- Publication type:
- Article
First Description of Late‐Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism.
- Published in:
- Arthritis & Rheumatology, 2022, v. 74, n. 4, p. 692, doi. 10.1002/art.41999
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- Publication type:
- Article