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1.
Genome-wide detection of human variants that disrupt intronic branchpoints.
Proc Natl Acad Sci U S A;
119(44): e2211194119, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36306325
2.
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.
J Clin Immunol;
44(2): 54, 2024 Jan 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38265673
3.
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.
J Clin Immunol;
43(8): 1953-1963, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37597073
4.
Single cell transcriptomic analysis of Graves' disease thyroid glands reveals the broad immunoregulatory potential of thyroid follicular and stromal cells and implies a major re-interpretation of the role of aberrant HLA class II expression in autoimmunity.
J Autoimmun;
139: 103072, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37336012
5.
Anti-nuclear valosin-containing protein-like autoantibody is associated with calcinosis and higher risk of cancer in systemic sclerosis.
Rheumatology (Oxford);
2023 Sep 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37769243
6.
Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction.
Nucleic Acids Res;
49(9): 5057-5073, 2021 05 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-33950194
7.
Coordinated Response to Imported Vaccine-Derived Poliovirus Infection, Barcelona, Spain, 2019-2020.
Emerg Infect Dis;
27(5): 1513-1516, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33900188
8.
Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome.
J Clin Immunol;
41(7): 1457-1462, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34089457
9.
Pre-existing Autoantibodies Neutralizing High Concentrations of Type I Interferons in Almost 10% of COVID-19 Patients Admitted to Intensive Care in Barcelona.
J Clin Immunol;
41(8): 1733-1744, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34570326
10.
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
J Clin Immunol;
41(3): 639-657, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33417088
11.
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
J Clin Immunol;
40(7): 987-1000, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32671674
12.
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
J Allergy Clin Immunol;
143(1): 359-368, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30273710
13.
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Hum Mutat;
40(7): 865-878, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31026367
14.
OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers.
J Clin Immunol;
44(4): 95, 2024 Apr 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38578307
15.
Analysis of the PD-1/PD-L1 axis in human autoimmune thyroid disease: Insights into pathogenesis and clues to immunotherapy associated thyroid autoimmunity.
J Autoimmun;
103: 102285, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31182340
16.
Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.
Clin Immunol;
195: 49-58, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30063981
17.
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Clin Immunol;
191: 44-51, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29572183
18.
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency.
J Clin Immunol;
38(4): 513-526, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29882021
19.
Central Tolerance Mechanisms to TSHR in Graves' Disease: Contributions to Understand the Genetic Association.
Horm Metab Res;
50(12): 863-870, 2018 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30396220
20.
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.
J Clin Immunol;
37(8): 781-789, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28942469