Detalhe da pesquisa
1.
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.
J Clin Immunol
; 44(7): 151, 2024 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38896336
2.
Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia.
J Clin Immunol
; 43(2): 479-484, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348183
3.
STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman's-Like Disease.
J Clin Immunol
; 39(8): 823-826, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31444685
4.
A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report.
Front Immunol
; 15: 1329610, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38361950
5.
PAX1 is essential for development and function of the human thymus.
Sci Immunol
; 5(44)2020 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32111619
6.
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
Parkinsonism Relat Disord
; 64: 145-149, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30975617
7.
Human interleukin-2 receptor ß mutations associated with defects in immunity and peripheral tolerance.
J Exp Med
; 216(6): 1311-1327, 2019 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040185
8.
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.
Front Immunol
; 9: 203, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29479355