Detalhe da pesquisa
1.
Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria.
Cell
; 183(7): 1826-1847.e31, 2020 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296702
2.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol
; 207(1): 133-152, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183371
3.
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
4.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Hum Mol Genet
; 27(22): 3919-3935, 2018 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222290
5.
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
6.
IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis.
J Allergy Clin Immunol
; 143(6): 2215-2226.e7, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30578871
7.
Mendelian susceptibility to mycobacterial disease: 2014-2018 update.
Immunol Cell Biol
; 97(4): 360-367, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30264912
8.
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Crit Rev Clin Lab Sci
; 55(3): 184-204, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29502462
9.
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency.
J Clin Immunol
; 38(4): 513-526, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29882021
10.
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rß1 Deficiency.
J Clin Immunol
; 38(5): 617-627, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29995221
11.
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
12.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Hum Mol Genet
; 28(3): 524, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30329057
13.
LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency.
J Clin Immunol
; 39(7): 739-742, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31377971
14.
Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway.
Cells
; 9(2)2020 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32093117
15.
Inherited human IFN-γ deficiency underlies mycobacterial disease.
J Clin Invest
; 130(6): 3158-3171, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32163377
16.
IRF4 haploinsufficiency in a family with Whipple's disease.
Elife
; 72018 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29537367
17.
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
J Clin Invest
; 128(9): 3957-3975, 2018 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969437
18.
Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.
Turk J Pediatr
; 58(3): 331-336, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28266204