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Neuromyelitis optica spectrum disorder in Latin America: a global data share initiative
(Elsevier BV, 2025-06)
Juan I. Rojas
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Liliana Patrucco
;
Edgardo Cristiano
;
José I. Gortari
;
Paola A. Ortiz Salas
Scopus© Citations 2 1
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Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature
(American Association for the Advancement of Science (AAAS), 2025-01-10)
Marita Bosticardo
;
Kerry Dobbs
;
Ottavia M. Delmonte
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Andrew J. Martins
;
Francesca Pala
<jats:p> Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of <jats:italic>RAG</jats:italic> -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic <jats:italic>RAG</jats:italic> variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons. T helper 2 (T <jats:sub>H</jats:sub> 2) cell skewing and a prominent inflammatory signature characterize Omenn syndrome, whereas more hypomorphic forms of RAG deficiency are associated with a type 1 immune profile both in blood and tissues. We used cellular indexing of transcriptomes and epitopes by sequencing (CITE-seq) analysis to define the cell lineage–specific contribution to the immunopathology of the distinct RAG phenotypes. These insights may help improve the diagnosis and clinical management of the various forms of the disease. </jats:p>
Scopus© Citations 2 1
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Persistent Erythematous Papules on the Inflammatory Scalp: Answer
(2023)
LARRONDO GALVEZ, JORGE FELIPE
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Marianne Gosch
;
Javiera Donoso
;
Alex Castro
1
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Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome
(2023)
Roxane Labrosse
;
Julia I. Chu
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Myriam A. Armant
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John K. Everett
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Danilo Pellin
<jats:title>Abstract</jats:title> <jats:p>Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by combined immunodeficiency, eczema, microthrombocytopenia, autoimmunity, and lymphoid malignancies. Gene therapy (GT) to modify autologous CD34+ cells is an emerging alternative treatment with advantages over standard allogeneic hematopoietic stem cell transplantation for patients who lack well-matched donors, avoiding graft-versus-host-disease. We report the outcomes of a phase 1/2 clinical trial in which 5 patients with severe WAS underwent GT using a self-inactivating lentiviral vector expressing the human WAS complementary DNA under the control of a 1.6-kB fragment of the autologous promoter after busulfan and fludarabine conditioning. All patients were alive and well with sustained multilineage vector gene marking (median follow-up: 7.6 years). Clinical improvement of eczema, infections, and bleeding diathesis was universal. Immune function was consistently improved despite subphysiologic levels of transgenic WAS protein expression. Improvements in platelet count and cytoskeletal function in myeloid cells were most prominent in patients with high vector copy number in the transduced product. Two patients with a history of autoimmunity had flares of autoimmunity after GT, despite similar percentages of WAS protein–expressing cells and gene marking to those without autoimmunity. Patients with flares of autoimmunity demonstrated poor numerical recovery of T cells and regulatory T cells (Tregs), interleukin-10–producing regulatory B cells (Bregs), and transitional B cells. Thus, recovery of the Breg compartment, along with Tregs appears to be protective against development of autoimmunity after GT. These results indicate that clinical and laboratory manifestations of WAS are improved with GT with an acceptable safety profile. This trial is registered at clinicaltrials.gov as #NCT01410825.</jats:p>
12Scopus© Citations 30
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Latin American consensus recommendations on the risk of infections in people with multiple sclerosis treated with disease modifying drugs
(2023)
Berenice A. Silva
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Edgar Carnero Contentti
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Jefferson Becker
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José I Carranza
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Patricio E Correa-Díaz
Scopus© Citations 10
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Biosimilars approvals by thirteen regulatory authorities: A cross-national comparison
(2023)
Fernanda Lacerda da Silva Machado
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Martín Cañás
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Svetlana V. Doubova
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Martín A. Urtasun
;
Gustavo H. Marín
Scopus© Citations 9 1
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“HLA-C: evolution, epigenetics, and pathological implications in the major histocompatibility complex”
(2023)
Erick Velastegui
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Edwin Vera
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Wim Vanden Berghe
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Mindy S. Muñoz
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Andrea Orellana-Manzano
<jats:p>HLA-C, a gene located within the major histocompatibility complex, has emerged as a prominent target in biomedical research due to its involvement in various diseases, including cancer and autoimmune disorders; even though its recent addition to the MHC, the interaction between HLA-C and KIR is crucial for immune responses, particularly in viral infections. This review provides an overview of the structure, origin, function, and pathological implications of HLA-C in the major histocompatibility complex. In the last decade, we systematically reviewed original publications from Pubmed, ScienceDirect, Scopus, and Google Scholar. Our findings reveal that genetic variations in HLA-C can determine susceptibility or resistance to certain diseases. However, the first four exons of HLA-C are particularly susceptible to epigenetic modifications, which can lead to gene silencing and alterations in immune function. These alterations can manifest in diseases such as alopecia areata and psoriasis and can also impact susceptibility to cancer and the effectiveness of cancer treatments. By comprehending the intricate interplay between genetic and epigenetic factors that regulate HLA-C expression, researchers may develop novel strategies for preventing and treating diseases associated with HLA-C dysregulation.</jats:p>
Scopus© Citations 18 1
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Enfermedad relacionada a IgG4. Serie clínica de pacientes chilenos
(2022)
María C. Cuéllar
;
Miguel Gutiérrez
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Alejandra Herrera
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Fabián Elgueta
;
Pamela Wurmann
Scopus© Citations 1 4
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Therapeutic strategies in NMOSD and MOGAD patients: A multicenter cohort study in Latin America
(2023)
Juan Ignacio Rojas
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Pablo A. López
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Juan Criniti
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Juan Pablo Pettinicchi
;
Alejandro Caride
46Scopus© Citations 7
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Frequency of NMOSD misdiagnosis in a cohort from Latin America: Impact and evaluation of different contributors
(2022)
Edgar Carnero Contentti
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Pablo A López
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Juan Criniti
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Ricardo Alonso
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Berenice Silva
<jats:sec><jats:title>Background:</jats:title><jats:p> Neuromyelitis optica spectrum disorder (NMOSD) misdiagnosis (i.e. the incorrect diagnosis of patients who truly have NMOSD) remains an issue in clinical practice. We determined the frequency and factors associated with NMOSD misdiagnosis in patients evaluated in a cohort from Latin America. </jats:p></jats:sec><jats:sec><jats:title>Methods:</jats:title><jats:p> We retrospectively reviewed the medical records of patients with NMOSD, according to the 2015 diagnostic criteria, from referral clinics in six Latin American countries (Argentina, Chile, Paraguay, Colombia, Ecuador, and Venezuela). Diagnoses prior to NMOSD and ultimate diagnoses, demographic, clinical and paraclinical data, and treatment schemes were evaluated. </jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p> A total of 469 patients presented with an established diagnosis of NMOSD (73.2% seropositive) and after evaluation, we determined that 56 (12%) patients had been initially misdiagnosed with a disease other than NMOSD. The most frequent alternative diagnoses were multiple sclerosis (MS; 66.1%), clinically isolated syndrome (17.9%), and cerebrovascular disease (3.6%). NMOSD misdiagnosis was determined by MS/NMOSD specialists in 33.9% of cases. An atypical MS syndrome was found in 86% of misdiagnosed patients, 50% had NMOSD red flags in brain and/or spinal magnetic resonance imaging (MRI), and 71.5% were prescribed disease-modifying drugs. </jats:p></jats:sec><jats:sec><jats:title>Conclusions:</jats:title><jats:p> NMOSD misdiagnosis is relatively frequent in Latin America (12%). Misapplication and misinterpretation of clinical and neuroradiological findings are relevant factors associated with misdiagnosis. </jats:p></jats:sec>
11Scopus© Citations 14

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