Detalhe da pesquisa
1.
An essential role for the Zn2+ transporter ZIP7 in B cell development.
Nat Immunol
; 20(3): 350-361, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30718914
2.
Dual proteolytic pathways govern glycolysis and immune competence.
Cell
; 159(7): 1578-90, 2014 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-25525876
3.
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
Inglês
| MEDLINE | ID: mdl-35305204
4.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.
Blood
; 136(9): 1055-1066, 2020 08 27.
Artigo
Inglês
| MEDLINE | ID: mdl-32518946
5.
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
Inglês
| MEDLINE | ID: mdl-33523338
6.
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
Inglês
| MEDLINE | ID: mdl-30731121
7.
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
Inglês
| MEDLINE | ID: mdl-31512162
8.
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
Inglês
| MEDLINE | ID: mdl-28780238
9.
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
Inglês
| MEDLINE | ID: mdl-29155317
10.
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
J Clin Immunol
; 37(1): 42-50, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27807805
11.
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Blood
; 125(4): 591-9, 2015 Jan 22.
Artigo
Inglês
| MEDLINE | ID: mdl-25359994
12.
Respiratory Health and Related Quality of Life in Patients with Congenital Agammaglobulinemia in the Northern Region of the UK.
J Clin Immunol
; 36(5): 472-9, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27091141
13.
Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency.
J Clin Immunol
; 41(8): 1954-1956, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34427832
14.
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
J Clin Immunol
; 36(2): 117-22, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26801501
15.
STAT2 deficiency and susceptibility to viral illness in humans.
Proc Natl Acad Sci U S A
; 110(8): 3053-8, 2013 Feb 19.
Artigo
Inglês
| MEDLINE | ID: mdl-23391734
16.
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol
; 136(2): 402-12, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25724123
17.
Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis.
J Clin Immunol
; 35(7): 598-603, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26399252
18.
In vivo T-depleted reduced-intensity transplantation for GATA2-related immune dysfunction.
Blood
; 131(12): 1383-1387, 2018 03 22.
Artigo
Inglês
| MEDLINE | ID: mdl-29295841
19.
Primary Immune Deficiency Treatment Consortium (PIDTC) report.
J Allergy Clin Immunol
; 133(2): 335-47, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24139498
20.
Low-dose serotherapy improves early immune reconstitution after cord blood transplantation for primary immunodeficiencies.
Biol Blood Marrow Transplant
; 20(2): 243-9, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24225641