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1.
Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease.
Clin Immunol
; 255: 109732, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37562721
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32386415
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32813180
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32901356
5.
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
Blood
; 130(13): 1553-1564, 2017 09 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-28778864
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26162572
7.
Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).
J Clin Immunol
; 35(5): 445-8, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25947952
8.
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans.
Blood
; 121(16): 3117-25, 2013 Apr 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-23430113
9.
Marked and persistent eosinophilia in the absence of clinical manifestations.
J Allergy Clin Immunol
; 133(4): 1195-202, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23987798
10.
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
J Clin Invest
; 134(3)2024 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38015619
11.
SARS-CoV-2 Spike Protein-Directed Monoclonal Antibodies May Ameliorate COVID-19 Complications in APECED Patients.
Front Immunol
; 12: 720205, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34504497
12.
T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.
J Exp Med
; 218(12)2021 12 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34694366
13.
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Front Immunol
; 10: 23, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30778343
14.
Taste-aversion-prone (TAP) rats and taste-aversion-resistant (TAR) rats differ in ethanol self-administration, but not in ethanol clearance or general consumption.
Alcohol
; 33(1): 1-7, 2004 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-15353168
15.
Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.
Front Immunol
; 5: 531, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25404929
16.
Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.
J Exp Med
; 210(12): 2739-53, 2013 Nov 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-24218138
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