Detalhe da pesquisa
1.
A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.
J Clin Immunol;
41(6): 1376-1379, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33825088
2.
Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies.
J Allergy Clin Immunol;
144(3): 809-824, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30826363
3.
Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis.
Emerg Infect Dis;
25(5): 976-979, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31002074
4.
Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12-related autoinflammatory disorder-A case report.
Pediatr Allergy Immunol;
34(9): e14020, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37747755
5.
Ulcerated papules and nodules in an infant.
Pediatr Dermatol;
37(4): e49-e50, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32706475
6.
Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal.
Acta Med Port;
37(3): 187-197, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37294265
7.
Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment.
Front Pediatr;
11: 1200401, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37388286
8.
Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene.
Front Pediatr;
10: 1017195, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36299691
9.
Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.
Front Immunol;
13: 869728, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35592332
10.
Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.
J Allergy Clin Immunol;
135(6): 1638-41, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25592983
11.
Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome.
Front Immunol;
12: 654167, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33995370
12.
Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation.
Pediatr Infect Dis J;
38(2): e29-e31, 2019 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30138256
13.
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
Eur J Med Genet;
61(4): 185-188, 2018 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29174094
14.
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa.
Front Immunol;
9: 2863, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30619256
15.
Monoclonal IgG kappa gammopathy previous to hematopoietic stem cell transplantation in an infant with severe combined immunodeficiency.
Clin Immunol;
145(2): 133-5, 2012 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23022654
16.
Successful handling of autoimmunity in X-linked thrombocytopenia (XLT) using mycophenolate mofetil.
Pediatr Blood Cancer;
59(5): 961, 2012 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22692965
17.
Atypical presentation of erythema multiforme.
BMJ Case Rep;
15(7)2022 07 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35793857
18.
Beyond polycystic kidney disease.
BMJ Case Rep;
20172017 Oct 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28978585
19.
Congenital nephrotic syndrome in IL7Rα-SCID: A rare feature of maternofetal graft-versus-host disease.
J Allergy Clin Immunol Pract;
9(11): 4151-4153.e1, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34153518
20.
Mosaic trisomy 18 in a five-month-old infant.
Case Rep Pediatr;
2013: 929861, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23781370