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1.
Multilayer concept of autoimmune mechanisms and manifestations in inborn errors of immunity: Relevance for precision therapy.
J Allergy Clin Immunol
; 153(3): 615-628.e4, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38185417
2.
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol
; 44(2): 42, 2024 Jan 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38231436
3.
Clinical efficacy of SARS-CoV-2 Omicron-neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency.
J Med Virol
; 96(6): e29738, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38884390
4.
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.
Haematologica
; 109(2): 422-430, 2024 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37584291
5.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
; 49(D1): D1207-D1217, 2021 01 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33264411
6.
Spatio-Temporal Anomaly Detection with Graph Networks for Data Quality Monitoring of the Hadron Calorimeter.
Sensors (Basel)
; 23(24)2023 Dec 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38139524
7.
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.
J Allergy Clin Immunol
; 150(2): 456-466, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34920033
8.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33991581
9.
The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.
J Clin Immunol
; 42(3): 484-498, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34797428
10.
Regulatory B cells in patients suffering from inborn errors of immunity with severe immune dysregulation.
J Autoimmun
; 132: 102891, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36113303
11.
Immunological recovery following HLA-matched CD3+ TCR αß+/CD19+ depleted hematopoietic stem cell transplantation in children.
Pediatr Transplant
; 26(5): e14285, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35441401
12.
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
J Clin Immunol
; 41(8): 1878-1892, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34477998
13.
Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor.
J Med Genet
; 57(6): 427-433, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31704777
14.
Treatment with rapamycin can restore regulatory T-cell function in IPEX patients.
J Allergy Clin Immunol
; 145(4): 1262-1271.e13, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31874182
15.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
J Allergy Clin Immunol
; 145(5): 1452-1463, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31887391
16.
Risk factors for mixed chimerism in children with hemophagocytic lymphohistiocytosis after reduced toxicity conditioning.
Pediatr Blood Cancer
; 67(9): e28523, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32618429
17.
Rethinking PIDs: Why the distinction between primary and secondary immune disorders is more frequently relevant than that between inborn and acquired errors of immunity.
J Allergy Clin Immunol
; 153(6): 1543-1545, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38316271
18.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat
; 40(5): 649-655, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740824
19.
Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film.
Br J Haematol
; 204(2): 710-714, 2024 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37985135
20.
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol
; 44(3): 72, 2024 Feb 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38421526