Detalhe da pesquisa
1.
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Nat Immunol
; 25(2): 282-293, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38172257
2.
Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Nat Immunol
; 25(4): 717, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38347083
3.
Dual proteolytic pathways govern glycolysis and immune competence.
Cell
; 159(7): 1578-90, 2014 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25525876
4.
Homozygous IL37 mutation associated with infantile inflammatory bowel disease.
Proc Natl Acad Sci U S A
; 118(10)2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674380
5.
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.
N Engl J Med
; 377(1): 52-61, 2017 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28657829
6.
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.
Nature
; 475(7357): 471-6, 2011 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-21796205
7.
Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.
J Allergy Clin Immunol
; 133(6): 1667-75, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24797421
8.
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
J Allergy Clin Immunol
; 133(5): 1400-9, 1409.e1-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24589341
9.
Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.
J Allergy Clin Immunol
; 140(4): 1152-1156.e10, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28414062
10.
Additional diverse findings expand the clinical presentation of DOCK8 deficiency.
J Clin Immunol
; 32(4): 698-708, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22476911
11.
Combined immunodeficiency associated with DOCK8 mutations.
N Engl J Med
; 361(21): 2046-55, 2009 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-19776401
12.
Serological responses to human virome define clinical outcomes of Italian patients infected with SARS-CoV-2.
Int J Biol Sci
; 18(15): 5591-5606, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36263161
13.
Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation.
J Allergy Clin Immunol
; 136(3): 819-821.e1, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25930198
14.
Human interleukin-2 receptor ß mutations associated with defects in immunity and peripheral tolerance.
J Exp Med
; 216(6): 1311-1327, 2019 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040185
15.
A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family.
Front Immunol
; 9: 2944, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30619304
16.
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
J Exp Med
; 214(7): 1949-1972, 2017 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28606988
17.
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
J Exp Med
; 214(1): 91-106, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28011864
18.
Germline hypomorphic CARD11 mutations in severe atopic disease.
Nat Genet
; 49(8): 1192-1201, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28628108
19.
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.
Nat Genet
; 49(11): 1661, 2017 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29074947
20.
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.
Science
; 349(6246): 436-40, 2015 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206937