Detalhe da pesquisa
1.
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
Cell;
184(14): 3812-3828.e30, 2021 07 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34214472
2.
Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.
Genet Med;
26(2): 101028, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37978863
3.
Cytomegalovirus infection drives adaptive epigenetic diversification of NK cells with altered signaling and effector function.
Immunity;
42(3): 443-56, 2015 Mar 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25786176
4.
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.
Proc Natl Acad Sci U S A;
118(3)2021 01 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33408250
5.
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
Proc Natl Acad Sci U S A;
118(15)2021 04 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33876776
6.
Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.
J Clin Immunol;
43(1): 217-228, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36227411
7.
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
J Clin Immunol;
43(7): 1566-1580, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37273120
8.
Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.
N Engl J Med;
382(5): 437-445, 2020 01 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31995689
9.
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses.
J Allergy Clin Immunol;
149(4): 1358-1372, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34543653
10.
Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome.
J Clin Immunol;
42(3): 471-483, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35091979
11.
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.
Proc Natl Acad Sci U S A;
116(33): 16463-16472, 2019 08 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31346092
12.
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.
Proc Natl Acad Sci U S A;
116(38): 19055-19063, 2019 09 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31484767
13.
The Pathogenesis of Giant Condyloma Acuminatum (Buschke-Lowenstein Tumor): An Overview.
Int J Mol Sci;
23(9)2022 Apr 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35562936
14.
Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis.
Hum Genet;
139(6-7): 919-939, 2020 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32435828
15.
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
Proc Natl Acad Sci U S A;
113(51): E8277-E8285, 2016 12 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27930337
16.
Correction to: New DominantNegative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130Dependent HyperIgE Syndrome.
J Clin Immunol;
43(7): 1674, 2023 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37341861
17.
Human hyper-IgE syndrome: singular or plural?
Mamm Genome;
29(7-8): 603-617, 2018 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30094507
18.
Naive Donor NK Cell Repertoires Associated with Less Leukemia Relapse after Allogeneic Hematopoietic Stem Cell Transplantation.
J Immunol;
196(3): 1400-11, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26746188
19.
Deciphering the killer-cell immunoglobulin-like receptor system at super-resolution for natural killer and T-cell biology.
Immunology;
150(3): 248-264, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27779741
20.
Effectiveness and safety of ruxolitinib for the treatment of refractory systemic idiopathic juvenile arthritis like associated with interstitial lung disease : a case report.
Ann Rheum Dis;
81(2): e20, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32054604