Detalhe da pesquisa
1.
FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.
Cell
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701783
2.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Cell
; 187(2): 390-408.e23, 2024 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38157855
3.
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.
Cell
; 186(23): 5114-5134.e27, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37875108
4.
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
Cell
; 184(14): 3812-3828.e30, 2021 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214472
5.
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Nature
; 623(7988): 803-813, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37938781
6.
Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.
J Clin Immunol
; 43(1): 217-228, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36227411
7.
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.
J Clin Immunol
; 43(8): 1941-1952, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584719
8.
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.
Ann Hum Genet
; 84(1): 102-106, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31571209
9.
Potential of rare actinomycetes in the production of metabolites against multiple oxidant agents.
Pharm Biol
; 56(1): 51-59, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29275696
10.
Two Novel Biallelic RASGRP1 Mutations Presenting with Immunodeficiency, Hodgkin's Lymphoma, and Autoimmunity.
J Clin Immunol
; 42(6): 1160-1163, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593944
11.
Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
J Exp Med
; 221(7)2024 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38722309
12.
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Science
; 383(6686): eadh4059, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38422122
13.
Inherited human ZNF341 deficiency.
Curr Opin Immunol
; 82: 102326, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37080116
14.
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
J Clin Invest
; 133(12)2023 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36976641
15.
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
J Exp Med
; 220(2)2023 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515678
16.
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
17.
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
J Exp Med
; 220(5)2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36884218
18.
Correction: Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
J Exp Med
; 221(7)2024 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38771261
19.
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.
J Exp Med
; 216(9): 2057-2070, 2019 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31270247