Detalhe da pesquisa
1.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit ß-type 10 in six infants with SCID-Omenn syndrome.
Am J Hum Genet
; 111(4): 791-804, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503300
2.
Outcomes of HLA-mismatched HSCT with TCRαß/CD19 depletion or post-HSCT cyclophosphamide for inborn errors of immunity.
Blood
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38669631
3.
Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity.
Blood
; 2024 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579284
4.
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
J Allergy Clin Immunol
; 153(1): 275-286.e18, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935260
5.
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.
Blood
; 139(13): 2066-2079, 2022 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35100336
6.
Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study.
Blood
; 140(14): 1635-1649, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344580
7.
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years' Experience.
J Clin Immunol
; 43(8): 1812-1826, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452206
8.
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers.
J Clin Immunol
; 43(8): 1964-1973, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37620741
9.
Advances in the treatment of severe combined immunodeficiency.
Clin Immunol
; 242: 109084, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35940359
10.
TCRαß-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency.
J Clin Immunol
; 42(4): 851-858, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35305204
11.
Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults.
Blood
; 136(10): 1201-1211, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32614953
12.
Stem cell transplantation as treatment for major histocompatibility class I deficiency.
Clin Immunol
; 229: 108801, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34280577
13.
HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function.
Clin Immunol
; 229: 108799, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34280579
14.
Haematopoietic stem cell transplantation in paediatric rheumatic disease.
Curr Opin Rheumatol
; 33(5): 387-397, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34261117
15.
Outcome of Hematopoietic Stem Cell Transplantation in patients with Mendelian Susceptibility to Mycobacterial Diseases.
J Clin Immunol
; 41(8): 1774-1780, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387798
16.
Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia.
J Clin Immunol
; 41(7): 1574-1581, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164761
17.
Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome.
J Clin Immunol
; 41(5): 934-943, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33523338
18.
Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency.
Curr Allergy Asthma Rep
; 20(10): 57, 2020 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32648006
19.
Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.
J Clin Immunol
; 39(8): 776-785, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512162
20.
Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.
Blood
; 129(15): 2198-2201, 2017 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28209722