Detalhe da pesquisa
1.
The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders.
Rheumatology (Oxford)
; 61(2): 696-704, 2022 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909886
2.
Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a TINF2 Variant.
Int J Mol Sci
; 23(23)2022 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498862
3.
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Am J Hematol
; 96(9): 1077-1086, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34000087
4.
Underlying CTLA4 Deficiency in a Patient With Juvenile Idiopathic Arthritis and Autoimmune Lymphoproliferative Syndrome Features Successfully Treated With Abatacept-A Case Report.
J Pediatr Hematol Oncol
; 43(8): e1168-e1172, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33625086
5.
Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein Deficiency.
J Pediatr Hematol Oncol
; 42(8): e768-e771, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876783
6.
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.
Br J Haematol
; 187(4): 502-508, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31309545
7.
Evaluation of Chimerism Dynamics after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Nonmalignant Diseases.
Biol Blood Marrow Transplant
; 24(5): 1088-1093, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29292059
8.
TACI variants as underlying condition in autoimmune neutropenia: Description of four cases.
Am J Hematol
; 97(9): E328-E331, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35686370
9.
Mycophenolate mofetil and Sirolimus as second or further line treatment in children with chronic refractory Primitive or Secondary Autoimmune Cytopenias: a single centre experience.
Br J Haematol
; 171(2): 247-253, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26058843
10.
Impaired immune response to Candida albicans in cells from Fanconi anemia patients.
Cytokine
; 73(1): 203-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25769809
11.
Clinical features and therapeutic challenges of cytopenias belonging to alps and alps-related (ARS) phenotype.
Br J Haematol
; 184(5): 861-864, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29527658
12.
Newly designed double-vascularized nasoseptal flap to prevent restenosis after endoscopic modified Lothrop procedure (Draf III): laboratory investigation.
Eur Arch Otorhinolaryngol
; 271(11): 2951-5, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24609647
13.
RAG deficiency with ALPS features successfully treated with TCRαß/CD19 cell depleted haploidentical stem cell transplant.
Clin Immunol
; 187: 102-103, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29104089
14.
Sirolimus as a rescue therapy in children with immune thrombocytopenia refractory to mycophenolate mofetil.
Am J Hematol
; 93(7): E175-E177, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29675829
15.
Immunological profile of Fanconi anemia: a multicentric retrospective analysis of 61 patients.
Am J Hematol
; 88(6): 472-6, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23483621
16.
Successful Second Unrelated Donor Hematopoietic Stem Cell Transplant in a Patient With Dyskeratosis Congenital After First Graft Rejection.
Exp Clin Transplant
; 21(4): 368-374, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969530
17.
Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
Hemasphere
; 7(3): e845, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36844186
18.
Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.
Front Immunol
; 13: 869033, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35655776
19.
Haploidentical Stem Cell Transplantation After TCR-αß+ and CD19+ Cells Depletion In Children With Congenital Non-Malignant Disease.
Transplant Cell Ther
; 28(7): 394.e1-394.e9, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35405368
20.
Case Report: Atypical Manifestations Associated With FOXP3 Mutations. The "Fil Rouge" of Treg Between IPEX Features and Other Clinical Entities?
Front Immunol
; 13: 854749, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35479070