Detalhe da pesquisa
1.
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
J Clin Immunol
; 41(3): 639-657, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417088
2.
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Blood
; 132(22): 2362-2374, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30254128
3.
Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient.
J Clin Immunol
; 38(7): 794-803, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30264381
4.
Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rß1 Deficiency.
J Clin Immunol
; 37(7): 732-738, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28865061
5.
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.
J Exp Med
; 220(1)2023 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36326697
6.
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
Sci Immunol
; 8(80): eabq5204, 2023 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36763636
7.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Genome Med
; 15(1): 22, 2023 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020259
8.
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.
J Exp Med
; 219(7)2022 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670811
9.
Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.
J Exp Med
; 219(10)2022 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36094518
10.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
medRxiv
; 2022 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36324795
11.
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Sci Immunol
; 6(62)2021 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413140
12.
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Science
; 370(6515)2020 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32972995
13.
Leishmania infantum expresses a mitochondrial nuclease homologous to EndoG that migrates to the nucleus in response to an apoptotic stimulus.
Mol Biochem Parasitol
; 163(1): 28-38, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18940204
14.
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Genome Med
; 16(1): 6, 2024 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184654
15.
[Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease].
Biomedica
; 38(0): 30-42, 2018 05 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-29809327
16.
Correction: Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.
J Exp Med
; 219(12)2022 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36342405
17.
[Expression and activity of polymorphisms in the 67-kDa protein of the NADPH oxidase system]. / Expresión y actividad de posibles polimorfismos provenientes de individuos normales en la proteína de 67 kd del sistema NADPH oxidasa utilizando el sistema COSphox.
Biomedica
; 24(3): 262-72, 2004 Sep.
Artigo
em Espanhol
| MEDLINE | ID: mdl-15551878
18.
Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecular / Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease
Biomédica (Bogotá)
; 38(supl.1): 30-42, mayo 2018. tab, graf
Artigo
em Espanhol
| LILACS | ID: biblio-950952
19.
Expresión y actividad de posibles polimorfismos provenientes de individuos normales en la proteína de 67 kd del sistema NADPH oxidasa utilizando el sistema COS phox / Expression and activity of polymorphisms in the 67-kDa protein of the NADPH oxidase system
Biomédica (Bogotá)
; 24(3): 262-272, sept. 2004. ilus
Artigo
em Espanhol
| LILACS | ID: lil-422502