Detalhe da pesquisa
1.
RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics.
Nat Immunol
; 17(12): 1352-1360, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27776107
2.
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Blood Adv
; 6(7): 2444-2451, 2022 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34920454
3.
Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.
J Clin Invest
; 129(10): 4194-4206, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31449058
4.
Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.
Nat Commun
; 10(1): 4555, 2019 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578334