Detalhe da pesquisa
1.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
N Engl J Med
; 383(27): 2628-2638, 2020 12 31.
Artigo
Inglês
| MEDLINE | ID: mdl-33108101
2.
Histopathological features of fibrous cephalic plaques in tuberous sclerosis complex.
Histopathology
; 79(4): 619-628, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-33882161
3.
Vibratory Urticaria Associated with a Missense Variant in ADGRE2.
N Engl J Med
; 374(7): 656-63, 2016 Feb 18.
Artigo
Inglês
| MEDLINE | ID: mdl-26841242
4.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26119818
5.
APECED Rash as the First Manifestation of APECED Syndrome.
J Clin Immunol
; 43(8): 1774-1777, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37665538
6.
Pharmacological Blockade of the Chemokine Receptor CCR1 Protects Mice from Systemic Candidiasis of Hematogenous Origin.
Antimicrob Agents Chemother
; 61(3)2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27993850
7.
Early-onset stroke and vasculopathy associated with mutations in ADA2.
N Engl J Med
; 370(10): 911-20, 2014 Mar 06.
Artigo
Inglês
| MEDLINE | ID: mdl-24552284
8.
GATA-2-deficient mast cells limit IgE-mediated immediate hypersensitivity reactions in human subjects.
J Allergy Clin Immunol
; 144(2): 613-617.e14, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31102699
9.
Early recognition of the APECED rash can accelerate the diagnosis of APECED.
Clin Immunol Commun
; 5: 30-33, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38560426
10.
Calciphylaxis in POEMS syndrome: Case report.
Rare
; 22024.
Artigo
Inglês
| MEDLINE | ID: mdl-38435320
11.
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Front Immunol
; 14: 1133387, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36875114
12.
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
N Engl J Med
; 360(23): 2426-37, 2009 Jun 04.
Artigo
Inglês
| MEDLINE | ID: mdl-19494218
13.
Long-term antibiotic exposure promotes mortality after systemic fungal infection by driving lymphocyte dysfunction and systemic escape of commensal bacteria.
Cell Host Microbe
; 30(7): 1020-1033.e6, 2022 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35568028
14.
Gene therapy with human and mouse T-cell receptors mediates cancer regression and targets normal tissues expressing cognate antigen.
Blood
; 114(3): 535-46, 2009 Jul 16.
Artigo
Inglês
| MEDLINE | ID: mdl-19451549
15.
Aberrant type 1 immunity drives susceptibility to mucosal fungal infections.
Science
; 371(6526)2021 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33446526
16.
Response to Comments on "Aberrant type 1 immunity drives susceptibility to mucosal fungal infections".
Science
; 373(6561): eabi8835, 2021 Sep 17.
Artigo
Inglês
| MEDLINE | ID: mdl-34529475
17.
Recurrent erythematous plaques on sun-exposed sites in an African American boy with chronic granulomatous disease.
J Am Acad Dermatol
; 70(3): 576-80, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24528905
18.
Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance.
Sci Transl Med
; 11(495)2019 06 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31167928
19.
Host immune status-specific production of gliotoxin and bis-methyl-gliotoxin during invasive aspergillosis in mice.
Sci Rep
; 7(1): 10977, 2017 09 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28887465
20.
Genome-wide genetic characterization of bladder cancer: a comparison of high-density single-nucleotide polymorphism arrays and PCR-based microsatellite analysis.
Cancer Res
; 63(9): 2216-22, 2003 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-12727842