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1.
Phenotypic and pathomechanistic overlap between tapasin and TAP deficiencies.
J Allergy Clin Immunol
; 2024 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-38866210
2.
The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation.
J Clin Immunol
; 43(6): 1289-1301, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37084016
3.
CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis.
Int Arch Allergy Immunol
; 184(1): 76-84, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36273440
4.
Novel aspects of regulatory T cell dysfunction as a therapeutic target in giant cell arteritis.
Ann Rheum Dis
; 81(1): 124-131, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34583923
5.
Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency.
Int Arch Allergy Immunol
; 183(3): 337-349, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-34619682
6.
[Genetics of inborn errors of immunity]. / Zur Genetik angeborener Krankheiten des Immunsystems.
Z Rheumatol
; 81(4): 328-331, 2022 May.
Artículo
en Alemán
| MEDLINE | ID: mdl-35284991
7.
High frequency of variants in genes associated with primary immunodeficiencies in patients with rheumatic diseases with secondary hypogammaglobulinaemia.
Ann Rheum Dis
; 80(3): 392-399, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33046446
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.
A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia.
Clin Immunol
; 210: 108269, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31683054
10.
Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.
Clin Immunol
; 179: 1-7, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28216420
11.
Limited role of interferon-kappa (IFNK) truncating mutations in common variable immunodeficiency.
Cytokine
; 96: 71-74, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28324805
12.
Limitation of Simultaneous Analysis of T-Cell Receptor and κ-Deleting Recombination Excision Circles Based on Multiplex Real-Time Polymerase Chain Reaction in Common Variable Immunodeficiency Patients.
Int Arch Allergy Immunol
; 171(2): 136-140, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27902982
13.
Dupilumab to treat severe atopic dermatitis in autosomal dominant hyper-IgE syndrome.
Clin Immunol
; 215: 108452, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32360519
14.
A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency.
J Clin Immunol
; 39(3): 274-276, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31001706
15.
Primary immunodeficiency disorder caused by phosphoinositide 3-kinase δ deficiency.
J Allergy Clin Immunol
; 142(5): 1650-1653.e2, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30040974
16.
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
17.
Reduced mRNA expression level of corticotropin-releasing hormone-binding protein is associated with aggressive human kidney cancer.
BMC Cancer
; 13: 199, 2013 Apr 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-23607589
18.
Corrigendum: Vulnerability to meningococcal disease in immunodeficiency due to a novel pathogenic missense variant in NFKB1.
Front Immunol
; 14: 1212029, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37234149
19.
Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in PEPD.
RMD Open
; 9(4)2023 Dec 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38088248
20.
GATA5 CpG island methylation in renal cell cancer: a potential biomarker for metastasis and disease progression.
BJU Int
; 110(2 Pt 2): E144-52, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22289415