Detalhe da pesquisa
1.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Nat Immunol
; 25(5): 764-777, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609546
2.
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
3.
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
4.
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
5.
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
6.
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Blood
; 137(3): 349-363, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32845957
7.
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
8.
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
9.
CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.
J Clin Immunol
; 42(2): 336-349, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791587
10.
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.
J Clin Immunol
; 42(1): 119-129, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657245
11.
A Randomized, Placebo-controlled, Double-blind Pilot Study of Single-dose Humanized Anti-IL5 Antibody (Reslizumab) for the Reduction of Eosinophilia Following Diethylcarbamazine Treatment of Loa loa Infection.
Clin Infect Dis
; 73(7): e1624-e1631, 2021 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910141
12.
Patients With Natural Killer (NK) Cell Chronic Active Epstein-Barr Virus Have Immature NK Cells and Hyperactivation of PI3K/Akt/mTOR and STAT1 Pathways.
J Infect Dis
; 222(7): 1170-1179, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386415
13.
Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
J Clin Immunol
; 40(8): 1102, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32901356
14.
A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
J Clin Immunol
; 40(8): 1093-1101, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32813180
15.
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
Blood
; 130(13): 1553-1564, 2017 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28778864
16.
Glycosylation, hypogammaglobulinemia, and resistance to viral infections.
N Engl J Med
; 370(17): 1615-1625, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24716661
17.
IFNγR1 deficiency presenting with visceral leishmaniasis and Mycobacterium Avium infections mimicking HLH.
Pediatr Allergy Immunol
; 33(1): e13653, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34407251
18.
POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development.
J Clin Immunol
; 41(1): 270-273, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33140240
19.
Defining a new immune deficiency syndrome: MAN2B2-CDG.
J Allergy Clin Immunol
; 145(3): 1008-1011, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31775018
20.
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.
J Allergy Clin Immunol
; 136(4): 993-1006.e1, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26162572