Detalhe da pesquisa
1.
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.
Nat Immunol
; 23(8): 1256-1272, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35902638
2.
Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature.
Am J Med Genet A
; 188(7): 2005-2018, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338746
3.
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.
J Allergy Clin Immunol
; 145(1): 46-69, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31568798
4.
CXXC5 variant in an immunodeficient patient with a progressive loss of hematopoietic cells.
J Allergy Clin Immunol
; 147(4): 1504-1507.e8, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33075407
5.
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
Am J Hum Genet
; 93(5): 812-24, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24140114
6.
Expression of the mouse MHC class Ib H2-T11 gene product, a paralog of H2-T23 (Qa-1) with shared peptide-binding specificity.
J Immunol
; 193(3): 1427-39, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24958902
7.
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
J Clin Immunol
; 35(2): 119-24, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25516070
8.
Systemic Evaluation of the Immune System in Infants to Predict the Development of Pediatric Asthma.
Clin Chem
; 66(12): 1477-1479, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200176
9.
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
Am J Med Genet A
; 164A(1): 17-28, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24259288
10.
Severely depressed interleukin-17 production by human neonatal mononuclear cells.
Pediatr Res
; 76(6): 522-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25192396
11.
Performance of Three Anti-SARS-CoV-2 Anti-S and One Anti-N Immunoassays for the Monitoring of Immune Status and Vaccine Response.
Viruses
; 16(2)2024 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38400067
12.
Large-Scale Scientific Study Led by a Professional Organization during the COVID-19 Pandemic: Operations, Best Practices, and Lessons Learned.
J Appl Lab Med
; 9(2): 371-385, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38059919
13.
Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations.
Blood
; 128(16): 2100-2103, 2016 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27581358
14.
Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.
J Allergy Clin Immunol
; 139(2): 690-692.e3, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27609655
15.
Evolving Approach to Clinical Cytometry for Immunodeficiencies and Other Immune Disorders.
Clin Lab Med
; 43(3): 467-483, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37481324
16.
T Cell Responses Correlate with Self-Reported Disease Severity and Neutralizing Antibody Responses Predict Protection against SARS-CoV-2 Breakthrough Infection.
Viruses
; 15(3)2023 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36992418
17.
Anti-cytokine autoantibodies and inborn errors of immunity.
J Immunol Methods
; 508: 113313, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35817172
18.
Flow cytometry for B-cell subset analysis in immunodeficiencies.
J Immunol Methods
; 509: 113327, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934071
19.
Tolerance for three commonly administered COVID-19 vaccines by healthcare professionals.
Front Public Health
; 10: 975781, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36238255
20.
A Toolkit and Framework for Optimal Laboratory Evaluation of Individuals with Suspected Primary Immunodeficiency.
J Allergy Clin Immunol Pract
; 9(9): 3293-3307.e6, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34033983