Detalhe da pesquisa
1.
NLRP3 leucine-rich repeats control induced and spontaneous inflammasome activation in cryopyrin-associated periodic syndrome.
J Allergy Clin Immunol
; 151(1): 222-232.e9, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36075321
2.
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
J Clin Immunol
; 43(7): 1566-1580, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37273120
3.
[Which immunological pathologies are targeted by precision medicine?] / Quelles pathologies immunologiques sont ciblées par la médecine de précision ?
Rev Med Suisse
; 19(815): 370-373, 2023 Feb 22.
Artigo
em Francês
| MEDLINE | ID: mdl-36815327
4.
Update of evidence- and consensus-based guidelines for the treatment of juvenile idiopathic arthritis (JIA) by the German Society of Pediatric and Juvenile Rheumatic Diseases (GKJR): New perspectives on interdisciplinary care.
Clin Immunol
; 245: 109143, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191738
5.
Long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomised Phase 3 CLUSTER trial.
Rheumatology (Oxford)
; 61(5): 2088-2094, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34554243
6.
[Adenosine deaminase 2 deficiency: a disease with multiple presentations]. / Déficit en adénosine désaminase 2 : une maladie aux présentations multiples.
Rev Med Suisse
; 18(776): 669-673, 2022 Apr 06.
Artigo
em Francês
| MEDLINE | ID: mdl-35385618
7.
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
N Engl J Med
; 378(20): 1908-1919, 2018 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29768139
8.
Simple Plug-In Synthetic Step for the Synthesis of (-)-Camphor from Renewable Starting Materials.
Chembiochem
; 22(20): 2951-2956, 2021 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34033201
9.
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Clin Genet
; 99(6): 780-788, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33586135
10.
Engineering of a borneol dehydrogenase from P. putida for the enzymatic resolution of camphor.
Appl Microbiol Biotechnol
; 105(8): 3159-3167, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33846823
11.
Epidemiology of Childhood Uveitis in a Tertiary Care Center: A 20-Year Study.
Klin Monbl Augenheilkd
; 238(4): 469-473, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33853188
12.
[Newborn screening for severe T and B lymphocyte deficiencies in Switzerland]. / Pédiatrie - Dépistage des nouveau-nés en Suisse pour les déficiences sévères à lymphocytes T et B.
Rev Med Suisse
; 17(720-1): 68-76, 2021 Jan 13.
Artigo
em Francês
| MEDLINE | ID: mdl-33443835
13.
[Pediatric COVID-19 - Pathophysiology, immune responses, genetic predispositions, hyperinflammatory syndrome]. / COVID-19 pédiatrique - Pathophysiologie, réponses immunitaires, prédispositions génétiques et syndrome hyperinflammatoire.
Rev Med Suisse
; 17(726): 334-337, 2021 Feb 17.
Artigo
em Francês
| MEDLINE | ID: mdl-33599408
14.
Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database.
Rheumatology (Oxford)
; 59(10): 2947-2952, 2020 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32125423
15.
Chronic non-bacterial osteomyelitis: a retrospective international study on clinical manifestations and response to treatment.
Clin Exp Rheumatol
; 38(6): 1255-1262, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32828142
16.
Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.
Ann Rheum Dis
; 78(10): 1405-1411, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31278138
17.
Classification criteria for autoinflammatory recurrent fevers.
Ann Rheum Dis
; 78(8): 1025-1032, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018962
18.
Periodic Fever with Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome Is Associated with a CARD8 Variant Unable To Bind the NLRP3 Inflammasome.
J Immunol
; 198(5): 2063-2069, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28137891
19.
Correction to: New DominantNegative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130Dependent HyperIgE Syndrome.
J Clin Immunol
; 43(7): 1674, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37341861
20.
In silico validation of the Autoinflammatory Disease Damage Index.
Ann Rheum Dis
; 77(11): 1599-1605, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30077992