Gina A. Montealegre Sanchez
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View article: TGFβ links EBV to multisystem inflammatory syndrome in children
TGFβ links EBV to multisystem inflammatory syndrome in children Open
In a subset of children and adolescents, SARS-CoV-2 infection induces a severe acute hyperinflammatory shock 1 termed multisystem inflammatory syndrome in children (MIS-C) at four to eight weeks after infection. MIS-C is characterized by a…
View article: Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE/PRAAS
Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE/PRAAS Open
We observed disease flares and rebound inflammation with baricitinib dose reductions and proposed flare criteria that can assist in monitoring disease activity and in designing clinical studies in CANDLE/PRAAS.
View article: Deep immune profiling uncovers novel associations with clinical phenotypes of multisystem inflammatory syndrome in children (MIS-C)
Deep immune profiling uncovers novel associations with clinical phenotypes of multisystem inflammatory syndrome in children (MIS-C) Open
View article: Deep immune profiling uncovers novel associations with clinical phenotypes of Multisystem Inflammatory Syndrome in Children (MIS-C)
Deep immune profiling uncovers novel associations with clinical phenotypes of Multisystem Inflammatory Syndrome in Children (MIS-C) Open
Multisystem Inflammatory Syndrome in Children (MIS-C) is a systemic inflammatory condition that follows SARS-CoV2 infection or exposure in children. Clinical presentations are highly variable and include fever, gastrointestinal (GI) diseas…
View article: The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: <scp>CANDLE</scp>/<scp>PRAAS</scp>, <scp>SAVI</scp>, and <scp>AGS</scp>
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: <span>CANDLE</span>/<span>PRAAS</span>, <span>SAVI</span>, and <span>AGS</span> Open
Objective Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome‐associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STIN…
View article: Autoantibodies Against Proteins Previously Associated With Autoimmunity in Adult and Pediatric Patients With COVID-19 and Children With MIS-C
Autoantibodies Against Proteins Previously Associated With Autoimmunity in Adult and Pediatric Patients With COVID-19 and Children With MIS-C Open
The antibody profile against autoantigens previously associated with autoimmune diseases and other human proteins in patients with COVID-19 or multisystem inflammatory syndrome in children (MIS-C) remains poorly defined. Here we show that …
View article: Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19
Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19 Open
View article: The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS Open
View article: Autoantibodies Detected in MIS-C Patients due to Administration of Intravenous Immunoglobulin
Autoantibodies Detected in MIS-C Patients due to Administration of Intravenous Immunoglobulin Open
The autoantibody profile associated with known autoimmune diseases in patients with COVID-19 or multisystem inflammatory syndrome in children (MIS-C) remains poorly defined. Here we show that adults with COVID-19 had a moderate prevalence …
View article: Multi-omics approach identifies novel age-, time- and treatment-related immunopathological signatures in MIS-C and pediatric COVID-19
Multi-omics approach identifies novel age-, time- and treatment-related immunopathological signatures in MIS-C and pediatric COVID-19 Open
Pediatric COVID-19 (pCOVID-19) is rarely severe, however a minority of SARS-CoV-2-infected children may develop MIS-C, a multisystem inflammatory syndrome with significant morbidity. In this longitudinal multi-institutional study, we used …
View article: Multiomics approach identifies novel age-, time- and treatment-related immunopathological signatures in MIS-C and pediatric COVID-19
Multiomics approach identifies novel age-, time- and treatment-related immunopathological signatures in MIS-C and pediatric COVID-19 Open
This repository contains the CITE-Seq data set used in the manuscript titled "Multiomics approach identifies novel age-, time- and treatment-related immunopathological signatures in MIS-C and pediatric COVID-19". This data set is composed …
View article: Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features
Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features Open
View article: Novel Majeed Syndrome–Causing <i>LPIN2</i> Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis
Novel Majeed Syndrome–Causing <i>LPIN2</i> Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis Open
Objective To identify novel heterozygous LPIN2 mutations in a patient with Majeed syndrome and characterize the pathomechanisms that lead to the development of sterile osteomyelitis. Methods Targeted genetic analysis and functional studies…
View article: An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome Open
Inflammasomes are innate immune sensors that respond to pathogen and damage-associated signals with caspase-1 activation, IL-1β and IL-18 secretion, and macrophage pyroptosis. The discovery that dominant gain-of-function mutations in NLRP3…
View article: Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases Open
BACKGROUNDUndifferentiated systemic autoinflammatory diseases (USAIDs) present diagnostic and therapeutic challenges. Chronic interferon (IFN) signaling and cytokine dysregulation may identify diseases with available targeted treatments.ME…
View article: Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4
Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4 Open
View article: Recurrent fevers, progressive lipodystrophy, and annular plaques in a child
Recurrent fevers, progressive lipodystrophy, and annular plaques in a child Open
View article: JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies Open
This research was supported by the Intramural Research Program of the NIH, NIAID, and NIAMS. Baricitinib was provided by Eli Lilly and Company, which is the sponsor of the expanded access program for this drug.
View article: Rash, Fever, and Pulmonary Hypertension in a 6‐Year‐Old Female
Rash, Fever, and Pulmonary Hypertension in a 6‐Year‐Old Female Open
A previously healthy 2-year-old Guatemalan female with an undiagnosed chronic illness characterized by fever and rash had presented with anorexia, weight loss, periorbital edema, abdominal pain and distention. A chest radiograph documented…
View article: Rilonacept maintains long-term inflammatory remission in patients with deficiency of the IL-1 receptor antagonist
Rilonacept maintains long-term inflammatory remission in patients with deficiency of the IL-1 receptor antagonist Open
NIH, NIAMS, and NIAID.
View article: Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN
Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN Open
View article: Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus
Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus Open
View article: Reversal of Alopecia Areata Following Treatment With the JAK1/2 Inhibitor Baricitinib
Reversal of Alopecia Areata Following Treatment With the JAK1/2 Inhibitor Baricitinib Open
Baricitinib may be an effective treatment for AA and warrants further investigation in clinical trials.