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1.
RelB-deficient autoinflammatory pathology presents as interferonopathy, but in mice is interferon-independent.
J Allergy Clin Immunol
; 152(5): 1261-1272, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37460023
2.
NFκB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity.
J Autoimmun
; 137: 102946, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-36402602
3.
Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.
Nucleic Acids Res
; 49(6): 3524-3545, 2021 04 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33660780
4.
DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.
Pediatr Allergy Immunol
; 33(1): e13694, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34738677
5.
Combined immunodeficiency caused by a novel homozygous NFKB1 mutation.
J Allergy Clin Immunol
; 147(2): 727-733.e2, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32980423
6.
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Gastroenterology
; 158(8): 2208-2220, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32084423
7.
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
RNA
; 25(9): 1130-1149, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31175170
8.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
J Allergy Clin Immunol
; 146(4): 901-911, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32278790
9.
Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy.
Clin Immunol
; 211: 108321, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31812707
10.
Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.
Blood
; 141(26): 3226-3230, 2023 06 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-36745868
11.
NF-κB pathway and the Goldilocks principle: Lessons from human disorders of immunity and inflammation.
J Allergy Clin Immunol
; 143(5): 1688-1701, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30940520
12.
Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.
J Allergy Clin Immunol
; 142(2): 618-629, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29180244
13.
Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).
J Allergy Clin Immunol
; 141(5): 1818-1830.e2, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28826773
14.
Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.
J Allergy Clin Immunol
; 141(2): 704-717.e5, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28601685
15.
Favorable outcome of COVID-19 in pediatric patients with primary immunodeficiency.
Pediatr Allergy Immunol
; 34(3): e13928, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36974644
16.
Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.
Gastroenterology
; 150(5): 1196-1207, 2016 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26836588
17.
Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency.
J Allergy Clin Immunol
; 145(3): 1011-1015.e6, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31778705
18.
Patients with Tâº/low NK⺠IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.
Eur J Immunol
; 44(10): 3129-40, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25042067
19.
The effects of RelB deficiency on lymphocyte development and function.
J Autoimmun
; 65: 90-100, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26385063
20.
IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.
Blood
; 122(24): 3940-50, 2013 Dec 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-24159173