Detalhe da pesquisa
1.
Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS).
J Allergy Clin Immunol
; 149(3): 1120-1127.e8, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34416217
2.
High-throughput compound screen reveals mTOR inhibitors as potential therapeutics to reduce (auto)antibody production by human plasma cells.
Eur J Immunol
; 50(1): 73-85, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31621069
3.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
4.
Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.
Clin Immunol
; 203: 23-27, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30953794
5.
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
J Allergy Clin Immunol
; 142(4): 1285-1296, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29477724
6.
Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.
J Immunol
; 194(8): 3623-33, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25769924
7.
Phenotypic and Functional Comparison of Class Switch Recombination Deficiencies with a Subgroup of Common Variable Immunodeficiencies.
J Clin Immunol
; 36(7): 656-66, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27484504
8.
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.
Ann Rheum Dis
; 74(10): 1931-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906636
9.
Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.
Blood
; 121(13): 2385-92, 2013 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335372
10.
Identification of B cell defects using age-defined reference ranges for in vivo and in vitro B cell differentiation.
J Immunol
; 190(10): 5012-9, 2013 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23585684
11.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
J Allergy Clin Immunol
; 143(6): 2296-2299, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30771411
12.
Chronic exposure of astrocytes to interferon-α reveals molecular changes related to Aicardi-Goutieres syndrome.
Brain
; 136(Pt 1): 245-58, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23365100
13.
Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis.
Clin Immunol
; 149(1): 25-31, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23891736
14.
Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.
Blood
; 117(22): 5892-6, 2011 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-21502542
15.
A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells.
Haematologica
; 98(7): 1030-8, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23403317
16.
B-cell targeting with anti-CD38 daratumumab: implications for differentiation and memory responses.
Life Sci Alliance
; 6(9)2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419630
17.
Transient anti-cytokine autoantibodies superimpose the hyperinflammatory response in Kawasaki disease and multisystem inflammatory syndrome in children: a comparative cohort study on correlates of disease.
EBioMedicine
; 95: 104736, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37524002
18.
A multi-platform approach to identify a blood-based host protein signature for distinguishing between bacterial and viral infections in febrile children (PERFORM): a multi-cohort machine learning study.
Lancet Digit Health
; 5(11): e774-e785, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37890901
19.
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations.
Sci Immunol
; 7(74): eabn3800, 2022 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35960817
20.
Neutrophils acquire antigen-presenting cell features after phagocytosis of IgG-opsonized erythrocytes.
Blood Adv
; 3(11): 1761-1773, 2019 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31182561