Detalhe da pesquisa
1.
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.
Am J Hum Genet
; 102(3): 480-486, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29455859
2.
The possession of exon 2 or exon 3 variants in the MEFV gene promotes inflammasome activation in Japanese patients with familial Mediterranean fever with a heterozygous exon 10 mutation.
Clin Exp Rheumatol
; 38 Suppl 127(5): 49-52, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33331265
3.
Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study.
Clin Exp Rheumatol
; 38 Suppl 127(5): 35-41, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33025889
4.
[AN ADULT CASE OF PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, AND ADENITIS (PFAPA) SYNDROME DEVELOPED IN CHILDHOOD AND DIAGNOSED AFTER PROGRESS MORE THAN 30 YEARS].
Arerugi
; 69(1): 53-58, 2020.
Artigo
em Japonês
| MEDLINE | ID: mdl-32051370
5.
Mosaicism of an ELANE Mutation in an Asymptomatic Mother.
J Clin Immunol
; 39(1): 106-111, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635825
6.
MicroRNA-204-3p inhibits lipopolysaccharide-induced cytokines in familial Mediterranean fever via the phosphoinositide 3-kinase γ pathway.
Rheumatology (Oxford)
; 57(4): 718-726, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29294109
7.
A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPε Leads to Neutrophil-Specific Granule Deficiency.
J Immunol
; 195(1): 80-6, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26019275
8.
Acute Myeloid Leukemia in a Patient With X-linked Severe Combined Immunodeficiency.
J Pediatr Hematol Oncol
; 39(8): e470-e472, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28678090
9.
Familial Mediterranean fever with P369S/R408Q exon3 variant in pyrin presenting as symptoms of PFAPA.
Mod Rheumatol
; 27(2): 356-359, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28001092
10.
Markedly elevated CD64 expression on neutrophils and monocytes as a biomarker for diagnosis and therapy assessment in Kawasaki disease.
Inflamm Res
; 65(7): 579-85, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27020279
11.
Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis.
ScientificWorldJournal
; 2016: 2597376, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27403452
12.
Dramatic Improvement in the Multifocal Positron Emission Tomography Findings of a Young Adult with Chronic Granulomatous Disease Following Allogeneic Hematopoietic Stem Cell Transplantation.
J Clin Immunol
; 35(1): 84-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25367170
13.
Dysregulated mature IL-1ß production in familial Mediterranean fever.
Rheumatology (Oxford)
; 54(4): 660-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25240611
14.
Clinical and laboratory features of fatal rapidly progressive interstitial lung disease associated with juvenile dermatomyositis.
Rheumatology (Oxford)
; 54(5): 784-91, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25288783
15.
Clinical course in a patient with neutrophil-specific granule deficiency and rapid detection of neutrophil granules as a screening test.
J Clin Immunol
; 34(7): 780-3, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25081842
16.
Successful cord blood transplantation after repeated transfusions of unmobilized neutrophils in addition to antifungal treatment in an infant with chronic granulomatous disease complicated by invasive pulmonary aspergillosis.
Transfusion
; 54(3): 516-21, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23808662
17.
Defect of suppression of inflammasome-independent interleukin-8 secretion from SW982 synovial sarcoma cells by familial Mediterranean fever-derived pyrin mutations.
Mol Biol Rep
; 41(1): 545-53, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24318677
18.
Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease.
J Clin Immunol
; 33(4): 857-64, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23306776
19.
Analysis of serum IL-38 in juvenile-onset systemic lupus erythematosus.
Mod Rheumatol
; 28(6): 1069-1072, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29385862
20.
Long-term epidemiologic longitudinal study on the effect of vaccines on public inoculation.
Turk J Pediatr
; 54(4): 376-81, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692718