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1.
Lifetime Stressful Events Associated with Alzheimer's Pathologies, Neuroinflammation and Brain Structure in a Risk Enriched Cohort.
Ann Neurol
; 2024 Mar 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38466157
2.
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.
Proc Natl Acad Sci U S A
; 119(21): e2200413119, 2022 05 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-35576468
3.
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
4.
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
5.
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
6.
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.
J Allergy Clin Immunol
; 149(1): 410-421.e7, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34033842
7.
Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies.
J Immunol
; 205(11): 2979-2987, 2020 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33115853
8.
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
9.
Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies.
J Clin Immunol
; 40(4): 602-609, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32291562
10.
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
11.
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
J Clin Immunol
; 40(6): 901-916, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32638196
12.
Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations.
Clin Immunol
; 201: 30-34, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30776520
13.
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
14.
CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome.
Immunol Cell Biol
; 96(10): 1060-1071, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29790605
15.
Age-specific pediatric reference ranges for immunoglobulins and complement proteins on the Optilite™ automated turbidimetric analyzer.
J Clin Lab Anal
; 32(6): e22420, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29603375
16.
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
17.
Evaluation of cytokine profile and HLA association in benznidazole related cutaneous reactions in patients with Chagas disease.
Clin Infect Dis
; 61(11): 1688-94, 2015 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26265500
18.
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
J Exp Med
; 221(2)2024 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38175961
19.
Biological brain age prediction using machine learning on structural neuroimaging data: Multi-cohort validation against biomarkers of Alzheimer's disease and neurodegeneration stratified by sex.
Elife
; 122023 04 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-37067031
20.
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Front Immunol
; 13: 881206, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35464398