Detalhe da pesquisa
1.
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.
Nat Immunol
; 15(1): 88-97, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24165795
2.
A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome.
Blood
; 141(9): 971-983, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399712
3.
Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders.
J Allergy Clin Immunol
; 153(1): 67-76, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977527
4.
Interim analysis: Open-label extension study of leniolisib for patients with APDS.
J Allergy Clin Immunol
; 153(1): 265-274.e9, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37797893
5.
FAS Inactivation Releases Unconventional Germinal Center B Cells that Escape Antigen Control and Drive IgE and Autoantibody Production.
Immunity
; 42(5): 890-902, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25979420
6.
Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals.
J Allergy Clin Immunol
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154666
7.
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Blood
; 137(18): 2450-2462, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512449
8.
Multibatch Cytometry Data Integration for Optimal Immunophenotyping.
J Immunol
; 206(1): 206-213, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33229441
9.
Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity.
J Allergy Clin Immunol
; 148(5): 1192-1197, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34492260
10.
Evans syndrome: pathology and genomic hubris.
Blood
; 139(3): 312-313, 2022 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35050333
11.
Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.
Blood
; 130(21): 2307-2316, 2017 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28972011
12.
Vaccine utilization and overwhelming post-splenectomy infection risk factors in two asplenia cohorts.
Haematologica
; 109(2): 622-626, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470143
13.
ALPS-ten lessons from an international workshop on a genetic disease of apoptosis.
Immunity
; 32(3): 291-5, 2010 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20346767
14.
Serendipity in splendid isolation: rapamycin.
Blood
; 127(1): 5-6, 2016 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26744433
15.
Clinical Challenges: Identification of Patients With Novel Primary Immunodeficiency Syndromes.
J Pediatr Hematol Oncol
; 40(5): e319-e322, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29200144
16.
JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities.
Blood
; 125(18): 2753-8, 2015 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691160
17.
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Blood
; 125(4): 591-9, 2015 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-25359994
18.
Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation.
Haematologica
; 102(2): 364-372, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27846610
19.
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.
Blood
; 123(13): 1989-99, 2014 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24398331
20.
Predispositions to Lymphoma: A Practical Review for Genetic Counselors.
J Genet Couns
; 25(6): 1157-1170, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27265405