Detalhe da pesquisa
1.
Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype.
Clin Immunol;
251: 109316, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37055004
2.
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.
J Clin Immunol;
42(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34664192
3.
Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.
J Pediatr Hematol Oncol;
41(4): e266-e269, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30044346
4.
Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy.
Clin Immunol;
173: 121-123, 2016 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27713031
5.
Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient.
Pediatr Allergy Immunol;
28(2): 203-206, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27893162
6.
Main human inborn errors of immunity leading to fungal infections.
Clin Microbiol Infect;
28(11): 1435-1440, 2022 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35863627
7.
Case Report: Crossing a rugged road in a primary immune regulatory disorder.
Front Pediatr;
10: 1055091, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36699297
8.
Targeted treatment of autoimmune cytopenias in primary immunodeficiencies.
Front Immunol;
13: 911385, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36052091
9.
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
Front Immunol;
13: 919237, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35967303
10.
Natural history of type 1 diabetes on an immunodysregulatory background with genetic alteration in B-cell activating factor receptor: A case report.
Front Immunol;
13: 952715, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36090979
11.
Immunological Aspects of X-Linked Chronic Granulomatous Disease Female Carriers.
Antioxidants (Basel);
10(6)2021 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34206017
12.
Corrigendum: Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient.
Front Pediatr;
9: 757229, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34604146
13.
Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient.
Front Pediatr;
9: 702546, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34307262
14.
Case Report: EBV Chronic Infection and Lymphoproliferation in Four APDS Patients: The Challenge of Proper Characterization, Therapy, and Follow-Up.
Front Pediatr;
9: 703853, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34540765
15.
Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept.
Eur J Gastroenterol Hepatol;
33(1S Suppl 1): e1051-e1056, 2021 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34034269
16.
Humoral and Cellular Response Following Vaccination With the BNT162b2 mRNA COVID-19 Vaccine in Patients Affected by Primary Immunodeficiencies.
Front Immunol;
12: 727850, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34671350
17.
Gut Mucosal and Fecal Microbiota Profiling Combined to Intestinal Immune System in Neonates Affected by Intestinal Ischemic Injuries.
Front Cell Infect Microbiol;
10: 59, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32158700
18.
Partial T cell defects and expanded CD56bright NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene.
J Leukoc Biol;
108(2): 739-748, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32392633
19.
Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience.
Inflamm Bowel Dis;
26(5): 720-727, 2020 04 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31375816
20.
Phenotypical T Cell Differentiation Analysis: A Diagnostic and Predictive Tool in the Study of Primary Immunodeficiencies.
Front Immunol;
10: 2735, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31849946