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Tumor hypoxia shapes natural killer cell anticancer activities
(Springer Science and Business Media LLC, 2025-05-30)
RETAMAL LUCERO, MAURICIO ANTONIO
;
Flavio Salazar-Onfray
;
Fermín E. González
;
Andrés Tittarelli
1
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Latin American association for the study of the liver (ALEH) guidance on postoperative care after liver transplantation
(Elsevier BV, 2025-07)
Liana Codes
;
ZAPATA LARRAIN, RODRIGO
;
Manuel Mendizabal
;
Alfeu de Medeiros Fleck Junior
;
Juan Carlos Restrepo
7Scopus© Citations 1
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Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency
(Elsevier BV, 2025-05)
Manar Abdalgani
;
Evelyn R. Hernandez
;
Luis A. Pedroza
;
Ivan K. Chinn
;
Lisa R. Forbes Satter
Scopus© Citations 1 2
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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
;
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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The Latin American Society for Immunodeficiencies Registry
(2024)
Gisela Seminario
;
Maria Edith Gonzalez-Serrano
;
Carolina Sanchez Aranda
;
Anete Sevciovic Grumach
;
Gesmar Rodrigues Silva Segundo
Scopus© Citations 1 3
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Proteasome disorders and inborn errors of immunity
(2023)
M. Cecilia Poli
<jats:title>Summary</jats:title><jats:p>Inborn errors of immunity (IEI) or primary immune deficiencies (PIDD) are caused by variants in genes encoding for molecules that are relevant to the innate or adaptive immune response. To date, defects in more than 450 different genes have been identified as causes of IEI, causing a constellation of heterogeneous clinical manifestations ranging from increased susceptibility to infection, to autoimmunity or autoinflammation. IEI that are mainly characterized by autoinflammation are broadly classified according to the inflammatory pathway that they predominantly perturb. Among autoinflammatory IEI are those characterized by the transcriptional upregulation of type I interferon genes and are referred to as interferonopathies. Within the spectrum of interferonopathies, genetic defects that affect the proteasome have been described to cause autoinflammatory disease and represent a growing area of investigation. This review is focused on describing the clinical, genetic, and molecular aspects of IEI associated with mutations that affect the proteasome and how the study of these diseases has contributed to delineate therapeutic interventions.</jats:p>
2Scopus© Citations 5
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Severe
<scp>SOPH</scp>
syndrome due to a novel
<i>NBAS</i>
mutation in a
<scp>27‐year‐old</scp>
woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades
(2020)
Yves Lacassie
;
Britt Johnson
;
Guillermo Lay‐Son
;
Rita Quintana
;
Andrew King
12Scopus© Citations 13
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Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature
(2021)
Josefina Longeri Contreras
;
Mabel A. Ladino
;
Katherine Aránguiz
;
Gonzalo P. Mendez
;
Zeynep Coban-Akdemir
<jats:p>Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caused by biallelic, pathogenic variants in <jats:italic>SLC7A7</jats:italic>. The clinical phenotype of LPI includes failure to thrive and multi-system disease including hematologic, neurologic, pulmonary and renal manifestations. Individual presentations are extremely variable, often leading to misdiagnosis or delayed diagnosis. Here we describe a patient that clinically presented with immune dysregulation in the setting of early-onset systemic lupus erythematosus (SLE), including renal involvement, in whom an LPI diagnosis was suspected post-mortem based on exome sequencing analysis. A review of the literature was performed to provide an overview of the clinical spectrum and immune mechanisms involved in this disease. The precise mechanism by which ineffective amino acid transport triggers systemic inflammatory features is not yet understood. However, LPI should be considered in the differential diagnosis of early-onset SLE, particularly in the absence of response to immunosuppressive therapy.</jats:p>
5Scopus© Citations 18
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Refractory systemic juvenile idiopathic arthritis successfully treated with rapamycin
(2021)
Sara Concha
;
Emma Rey-Jurado
;
M Cecilia Poli
;
Rodrigo Hoyos-Bachiloglu
;
Arturo Borzutzky
Scopus© Citations 6 1
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HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease
(2021)
Caridad Martinez
;
Frédéric Ebstein
;
Sarah K. Nicholas
;
Marietta De Guzman
;
Lisa R. Forbes
8Scopus© Citations 21

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