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1.
The efficacy and safety of systemic corticosteroids as first line treatment for granulomatous lymphocytic interstitial lung disease.
J Allergy Clin Immunol
; 152(2): 528-537, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36587851
2.
Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants.
Clin Immunol
; 234: 108910, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34922003
3.
SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study.
J Clin Immunol
; 42(5): 923-934, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35420363
4.
Decreased ATM Function Causes Delayed DNA Repair and Apoptosis in Common Variable Immunodeficiency Disorders.
J Clin Immunol
; 41(6): 1315-1330, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34009545
5.
A Novel, Heterozygous Three Base-Pair Deletion in CARD11 Results in B Cell Expansion with NF-κB and T Cell Anergy Disease.
J Clin Immunol
; 40(2): 406-411, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31897776
6.
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
J Allergy Clin Immunol
; 143(4): 1482-1495, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30170123
7.
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Blood
; 130(12): 1456-1467, 2017 09 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-28679735
8.
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease.
Gut
; 66(6): 1060-1073, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26953272
9.
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.
Clin Immunol
; 163: 17-21, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26680607
10.
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
Clin Immunol
; 160(2): 301-14, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26122175
11.
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.
J Clin Immunol
; 35(2): 112-8, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25504528
12.
Adult-onset immunodeficiency in Thailand and Taiwan.
N Engl J Med
; 367(8): 725-34, 2012 Aug 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-22913682
13.
A comprehensive characterization of chronic norovirus infection in immunodeficient hosts.
J Allergy Clin Immunol
; 144(5): 1450-1453, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31415785
14.
Antibody deficiency secondary to chronic lymphocytic leukemia: Should patients be treated with prophylactic replacement immunoglobulin?
J Clin Immunol
; 34(3): 277-82, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24557494
15.
OxPhos in adipose tissue macrophages regulated by BTK enhances their M2-like phenotype and confers a systemic immunometabolic benefit in obesity.
Diabetes
; 2024 Jan 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38193882
16.
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
Blood
; 118(10): 2653-5, 2011 Sep 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-21670465
17.
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.
Blood
; 115(8): 1519-29, 2010 Feb 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-20040766
18.
Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.
J Allergy Clin Immunol
; 138(6): 1722-1725.e6, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27543071
19.
Impact of vaccination on hospitalization and mortality from COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience.
Front Immunol
; 13: 984376, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36211396
20.
Increased Seroprevalence and Improved Antibody Responses Following Third Primary SARS-CoV-2 Immunisation: An Update From the COV-AD Study.
Front Immunol
; 13: 912571, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35720400