Detalhe da pesquisa
1.
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.
N Engl J Med
; 390(20): 1873-1884, 2024 May 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38810185
2.
Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE/PRAAS.
Ann Rheum Dis
; 2024 Apr 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38653530
3.
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Blood
; 137(18): 2450-2462, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33512449
4.
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.
J Med Genet
; 59(3): 294-304, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33495304
5.
The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist.
Ann Rheum Dis
; 81(7): 907-921, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35623638
6.
NEMO-NDAS: A Panniculitis in the Young Representing an Autoinflammatory Disorder in Disguise.
Am J Dermatopathol
; 44(6): e64-e66, 2022 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35120036
7.
Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome.
Blood
; 131(13): 1442-1455, 2018 03 29.
Artigo
Inglês
| MEDLINE | ID: mdl-29326099
8.
A clinical score to guide in decision making for monogenic type I IFNopathies.
Pediatr Res
; 87(4): 745-752, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31641281
9.
Post-SARS-CoV-2 Vaccine Monitoring of Disease Flares in Autoinflammatory Diseases.
J Clin Immunol
; 42(4): 732-735, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35169956
10.
Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.
J Clin Immunol
; 37(5): 445-451, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-28503715
11.
Development of the autoinflammatory disease damage index (ADDI).
Ann Rheum Dis
; 76(5): 821-830, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-27811147
12.
Anakinra for refractory pustular psoriasis: A phase II, open-label, dose-escalation trial.
J Am Acad Dermatol
; 87(6): 1380-1383, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36116584
13.
IL-1 blockade in autoinflammatory syndromes.
Annu Rev Med
; 65: 223-44, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24422572
14.
Low C4, C4A and C4B gene copy numbers are stronger risk factors for juvenile-onset than for adult-onset systemic lupus erythematosus.
Rheumatology (Oxford)
; 55(5): 869-73, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26800705
15.
Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy.
J Am Acad Dermatol
; 74(1): 186-9, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26584874
16.
CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.
Eur J Pediatr
; 175(5): 735-40, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26567544
17.
A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI).
J Allergy Clin Immunol
; 146(5): 1204-1208.e6, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32673614
18.
Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4.
J Allergy Clin Immunol
; 143(5): 1939-1943.e8, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30664889
19.
Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1ß inhibition.
J Allergy Clin Immunol
; 144(4): 1122-1125.e6, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31271789
20.
Biphasic JNK signaling reveals distinct MAP3K complexes licensing inflammasome formation and pyroptosis.
Cell Death Differ
; 30(2): 589-604, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36624264