Detalhe da pesquisa
1.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Nat Immunol
; 25(5): 764-777, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609546
2.
Natural history study of patients with familial platelet disorder with associated myeloid malignancy.
Blood
; 142(25): 2146-2158, 2023 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37738626
3.
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.
J Clin Immunol
; 44(4): 88, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578475
4.
A Cohort Study on Deficiency of ADA2 from China.
J Clin Immunol
; 43(4): 835-845, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807221
5.
TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).
J Allergy Clin Immunol
; 149(5): 1812-1816.e6, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780847
6.
"Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey.
J Genet Couns
; 30(6): 1707-1718, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34096130
7.
Donor-Derived Malignancy and Transplantation Morbidity: Risks of Patient and Donor Genetics in Allogeneic Hematopoietic Stem Cell Transplantation.
Transplant Cell Ther
; 30(3): 255-267, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37913908
8.
Multiomics integration of 22 immune-mediated monogenic diseases reveals an emergent axis of human immune health.
Res Sq
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993430
9.
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
JAMA Netw Open
; 6(5): e2315894, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256629
10.
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.
Front Immunol
; 12: 811473, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35095905