Detalhe da pesquisa
1.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Nat Immunol
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609546
2.
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
Nat Immunol
; 22(7): 893-903, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155405
3.
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.
Nature
; 577(7788): 103-108, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827281
4.
Old vaccines, new diseases: when BCG meets SPPL2a.
Nat Immunol
; 19(9): 906-907, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30127437
5.
Natural history study of patients with familial platelet disorder with associated myeloid malignancy.
Blood
; 142(25): 2146-2158, 2023 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37738626
6.
Aire Inhibits the Generation of a Perinatal Population of Interleukin-17A-Producing γδ T Cells to Promote Immunologic Tolerance.
Immunity
; 45(5): 999-1012, 2016 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27851927
7.
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
J Med Genet
; 61(3): 212-223, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788905
8.
IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes.
Clin Immunol
; 260: 109922, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38320737
9.
Parathyroid Hormone Resistance and Autoantibodies to the PTH1 Receptor.
N Engl J Med
; 385(21): 1974-1980, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788508
10.
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
J Allergy Clin Immunol
; 152(3): 736-747, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277074
11.
Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease.
Clin Immunol
; 255: 109732, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562721
12.
A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.
J Clin Immunol
; 43(2): 512-520, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36378426
13.
Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.
Clin Exp Immunol
; 212(2): 129-136, 2023 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36433803
14.
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Blood
; 137(3): 349-363, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32845957
15.
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Blood
; 138(12): 1019-1033, 2021 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33876203
16.
Non-selective dampening of the host immune response after hepatitis C clearance and its association with circulating chemokine and endotoxin levels.
Liver Int
; 43(12): 2701-2712, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37752797
17.
A Point Mutation in IKAROS ZF1 Causes a B Cell Deficiency in Mice.
J Immunol
; 206(7): 1505-1514, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658297
18.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
19.
Nodular regenerative hyperplasia in X-linked agammaglobulinemia: An underestimated and severe complication.
J Allergy Clin Immunol
; 149(1): 400-409.e3, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087243
20.
Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis, and rescue by IL-21.
J Allergy Clin Immunol
; 149(1): 302-314, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089750