Detalhe da pesquisa
1.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Cell
; 187(2): 390-408.e23, 2024 01 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38157855
2.
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.
Cell
; 186(23): 5114-5134.e27, 2023 11 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37875108
3.
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.
Cell
; 186(3): 621-645.e33, 2023 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36736301
4.
Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria.
Cell
; 183(7): 1826-1847.e31, 2020 12 23.
Artigo
Inglês
| MEDLINE | ID: mdl-33296702
5.
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Nature
; 623(7988): 803-813, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37938781
6.
Human autoantibodies neutralizing type I IFNs: From 1981 to 2023.
Immunol Rev
; 322(1): 98-112, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38193358
7.
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.
Proc Natl Acad Sci U S A
; 119(21): e2200413119, 2022 05 24.
Artigo
Inglês
| MEDLINE | ID: mdl-35576468
8.
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.
J Clin Immunol
; 44(3): 62, 2024 Feb 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38363432
9.
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.
Proc Natl Acad Sci U S A
; 118(3)2021 01 19.
Artigo
Inglês
| MEDLINE | ID: mdl-33408250
10.
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
Proc Natl Acad Sci U S A
; 118(15)2021 04 13.
Artigo
Inglês
| MEDLINE | ID: mdl-33876776
11.
Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited.
J Clin Immunol
; 43(1): 181-191, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36155879
12.
Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia.
J Clin Immunol
; 43(6): 1093-1103, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37209324
13.
Multibatch Cytometry Data Integration for Optimal Immunophenotyping.
J Immunol
; 206(1): 206-213, 2021 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33229441
14.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol
; 207(1): 133-152, 2021 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34183371
15.
Autoantibodies Neutralizing Type I Interferons in 20% of COVID-19 Deaths in a French Hospital.
J Clin Immunol
; 42(3): 459-470, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35083626
16.
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.
J Clin Immunol
; 42(5): 975-985, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35338423
17.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
J Clin Immunol
; 41(5): 958-966, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33534079
18.
Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona.
J Clin Immunol
; 41(8): 1733-1744, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34570326
19.
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
J Clin Immunol
; 41(3): 639-657, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33417088
20.
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.
Blood
; 134(1): 9-21, 2019 07 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30940614