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1.
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.
Nat Immunol;
23(8): 1256-1272, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35902638
2.
Functionally impaired antibody response to BNT162b2 booster vaccination in CVID IgG responders.
J Allergy Clin Immunol;
151(4): 922-925, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36463978
3.
[Principles of the diagnostics of inborn errors of immunity]. / Grundlagen der Diagnostik primärer Immunstörungen ("inborn errors of immunity").
Z Rheumatol;
82(4): 285-297, 2023 May.
Artículo
en Alemán
| MEDLINE | ID: mdl-37079035
4.
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
J Clin Immunol;
42(8): 1748-1765, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35947323
5.
Reduced numbers of circulating group 2 innate lymphoid cells in patients with common variable immunodeficiency.
Eur J Immunol;
47(11): 1959-1969, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28718914
6.
Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia.
Clin Immunol;
183: 41-45, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28705765
7.
Genotypic and phenotypic analysis of clinical isolates of Staphylococcus aureus revealed production patterns and hemolytic potentials unlinked to gene profiles and source.
BMC Microbiol;
16: 13, 2016 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26830934
8.
Combined immunodeficiency evolving into predominant CD4+ lymphopenia caused by somatic chimerism in JAK3.
J Clin Immunol;
34(8): 941-53, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25205547
9.
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.
J Allergy Clin Immunol;
141(6): 2303-2306, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29477728
10.
Complement Genetics for the Practicing Allergist Immunologist: Focus on Complement Deficiencies.
J Allergy Clin Immunol Pract;
10(7): 1703-1711, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35272074
11.
Antigen-Specific CD4+ T-Cell Activation in Primary Antibody Deficiency After BNT162b2 mRNA COVID-19 Vaccination.
Front Immunol;
13: 827048, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35237272
12.
Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation.
Front Immunol;
12: 747738, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34987501
13.
Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID.
Front Immunol;
12: 644687, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33959125
14.
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.
Front Immunol;
11: 574738, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33193364
15.
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Front Immunol;
11: 900, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32655540
16.
Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency.
Blood Adv;
8(3): 603-607, 2024 02 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37883797
17.
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.
J Allergy Clin Immunol Pract;
7(6): 1970-1985.e4, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30877075
18.
Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis.
Front Immunol;
9: 2984, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30619340
19.
Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.
PLoS One;
10(7): e0133220, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26186701
20.
Spectrum of gene mutations detected by next generation exome sequencing in brain metastases of lung adenocarcinoma.
Eur J Cancer;
51(13): 1803-11, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26164066
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