Detalhe da pesquisa
1.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
J Allergy Clin Immunol
; 153(1): 297-308.e12, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979702
2.
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
3.
Improved transplant survival and long-term disease outcome in children with MHC class II deficiency.
Blood
; 135(12): 954-973, 2020 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31932845
4.
HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.
J Allergy Clin Immunol
; 148(1): 250-255.e1, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33338535
5.
Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.
J Allergy Clin Immunol
; 147(6): 2381-2385.e2, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33279574
6.
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
7.
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
8.
Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency.
J Clin Immunol
; 41(1): 171-184, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141919
9.
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
10.
Outcome of autoimmune cytopenia after hematopoietic cell transplantation in primary immunodeficiency.
J Allergy Clin Immunol
; 146(2): 406-416, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442647
11.
New graft manipulation strategies improve the outcome of mismatched stem cell transplantation in children with primary immunodeficiencies.
J Allergy Clin Immunol
; 144(1): 280-293, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30731121
12.
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Blood
; 130(12): 1456-1467, 2017 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28679735
13.
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.
Proc Natl Acad Sci U S A
; 113(36): 10127-32, 2016 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27559085
14.
T-cell receptor αß+ and CD19+ cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency.
J Allergy Clin Immunol
; 141(4): 1417-1426.e1, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28780238
15.
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.
J Allergy Clin Immunol
; 141(2): 704-717.e5, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28601685
16.
Treosulfan and Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience.
Biol Blood Marrow Transplant
; 24(3): 529-536, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29155317
17.
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
J Allergy Clin Immunol
; 139(2): 597-606.e4, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27555459
18.
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
J Clin Immunol
; 37(1): 42-50, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27807805
19.
Early-onset stroke and vasculopathy associated with mutations in ADA2.
N Engl J Med
; 370(10): 911-20, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24552284
20.
Infection-Related Death among Persons with Refractory Juvenile Idiopathic Arthritis.
Emerg Infect Dis
; 22(10): 1720-7, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27648582