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.
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol
; 44(2): 42, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231436
3.
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
J Clin Immunol
; 42(8): 1748-1765, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947323
4.
Lineage Reconstruction of In Vitro Identified Antigen-Specific Autoreactive B Cells from Adaptive Immune Receptor Repertoires.
Int J Mol Sci
; 24(1)2022 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613668
5.
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol
; 44(3): 72, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421526
6.
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.
J Allergy Clin Immunol
; 141(6): 2303-2306, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29477728
7.
A Novel Transmembrane CXCR4 Variant That Expands the WHIM Genotype-Phenotype Paradigm.
Blood Adv
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38768429
8.
Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency.
J Clin Immunol
; 38(6): 642-645, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30159811
9.
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
10.
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
11.
Case Report: Initial Treatment Adjustments and Complications in Ovarian Cancer Patient With Inborn Error of Immunity.
Front Oncol
; 12: 843741, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35847860
12.
Corrigendum: Case report: Initial treatment adjustments and complications in ovarian cancer patient with inborn error of immunity.
Front Oncol
; 12: 1007616, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36226071
13.
Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene.
Front Immunol
; 13: 890073, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35799777
14.
Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.
Front Immunol
; 11: 1954, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33117328
15.
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.
Front Immunol
; 11: 574738, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33193364
16.
Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1.
Front Pediatr
; 7: 139, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069201
17.
Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency.
Front Pediatr
; 7: 122, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058115
18.
Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency.
Front Pediatr
; 7: 235, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31334206
19.
Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency.
Blood Adv
; 8(3): 603-607, 2024 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883797
20.
Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening.
Front Pediatr
; 7: 55, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31024866