Detalles de la búsqueda
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.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
J Allergy Clin Immunol
; 152(4): 984-996.e10, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37390899
4.
[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
5.
Can we identify WHIM in infancy? Opportunities with the public newborn screening process.
Am J Med Genet C Semin Med Genet
; 190(2): 215-221, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36210583
6.
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
7.
SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
J Clin Immunol
; 42(6): 1171-1192, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35503492
8.
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
9.
Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia.
Clin Immunol
; 183: 41-45, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28705765
10.
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
11.
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
12.
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
13.
A Novel Transmembrane CXCR4 Variant That Expands the WHIM Genotype-Phenotype Paradigm.
Blood Adv
; 2024 May 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-38768429
14.
Leukapheresis in non-cytokine-stimulated donors with a new apheresis system: first-time collection results and evaluation of subsequent cryopreservation.
Transfusion
; 53(4): 747-56, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22803702
15.
Effects of immediate or delayed addition of platelet additive solution on the in vitro quality of apheresis platelets.
Transfusion
; 52(6): 1237-44, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22070790
16.
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
17.
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
18.
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
19.
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
20.
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.
Front Immunol
; 11: 574738, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33193364