Ariane Soldatos
A5032103323- Genomics and Rare Diseases
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Autoimmune Neurological Disorders and Treatments
- RNA and protein synthesis mechanisms
- Immunodeficiency and Autoimmune Disorders
- Infectious Encephalopathies and Encephalitis
- Genomics and Phylogenetic Studies
- Peripheral Neuropathies and Disorders
- Herpesvirus Infections and Treatments
- Cytomegalovirus and herpesvirus research
- Glycogen Storage Diseases and Myoclonus
- Viral Infections and Immunology Research
- Autoimmune and Inflammatory Disorders Research
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- Genetic and Kidney Cyst Diseases
- Infective Endocarditis Diagnosis and Management
- Immune Cell Function and Interaction
- Neurological disorders and treatments
- Long-Term Effects of COVID-19
- Congenital heart defects research
- Glioma Diagnosis and Treatment
- Adenosine and Purinergic Signaling
- Hedgehog Signaling Pathway Studies
National Institutes of Health
2015-2024
National Institute of Neurological Disorders and Stroke
2014-2024
National Human Genome Research Institute
2014-2023
National Heart Lung and Blood Institute
2023
Office of Extramural Research
2022
National Institute of Allergy and Infectious Diseases
2019-2020
SUNY Upstate Medical University
2020
Cleveland Clinic
2020
Duke University
2020
Boston Children's Hospital
2013-2020
Background. Encephalitis continues to result in substantial morbidity and mortality worldwide. Advances diagnosis management have been limited, part, by a lack of consensus on case definitions, standardized diagnostic approaches, priorities for research.
BACKGROUND. Monogenic IFN–mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN response gene signature, inflammatory organ damage, and high mortality. We used the JAK inhibitor baricitinib, IFN-blocking activity vitro, to ameliorate disease.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous
Identifying infectious causes of subacute or chronic meningitis can be challenging. Enhanced, unbiased diagnostic approaches are needed.To present a case series patients with diagnostically challenging using metagenomic next-generation sequencing (mNGS) cerebrospinal fluid (CSF) supported by statistical framework generated from mNGS control samples the environment and who were noninfectious.In this series, data obtained CSF 94 noninfectious neuroinflammatory disorders 24 water reagent used...
Adenosine Deaminase 2 Deficiency and TNF Inhibition The manifestations of a deficiency adenosine deaminase 2, genetic disease, include early-onset lacunar stroke. In series 15 patients wi...
Medical diagnosis and molecular or biochemical confirmation typically rely on the knowledge of clinician. Although this is very difficult in extremely rare diseases, we hypothesized that recording patient phenotypes Human Phenotype Ontology (HPO) terms computationally ranking putative disease-associated sequence variants improves diagnosis, particularly for patients with atypical clinical profiles.
Abstract Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at presentation, evolving through a caudocranial pattern into generalized dystonia, prominent oromandibular, laryngeal cervical involvement. Although KMT2B-related is emerging as one the most common causes early-onset genetic much remains to be understood about full spectrum disease. We describe cohort...
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease that has undergone extensive phenotypic expansion since being first described in patients with fevers, recurrent strokes, livedo racemosa, and polyarteritis nodosa 2014. It now recognized may develop multisystem spans multiple medical subspecialties. Here, we describe the findings from a large single center longitudinal cohort 60 patients, broad presentation, as well highlight cohort’s experience...
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To highlight a novel, treatable syndrome, we report 4 patients with CNS-isolated inflammation associated familial hemophagocytic lymphohistiocytosis (FHL) gene mutations (CNS-FHL).Retrospective chart review.Patients CNS-FHL are characterized by chronic restricted to the CNS that is not attributable any previously described neuroinflammatory etiology and have germline in known FHL-associated genes no signs of systemic inflammation. Hematopoietic stem cell transplantation (HCT) can be well...
To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in
Autoimmune etiologies are a common cause for encephalitis. The clinical syndromes consistent with autoimmune encephalitis both distinct and increasingly recognized, but less is known about persisting sequelae or outcomes. We searched PubMed reports on outcomes after Studies assessing validated, quantitative were included. performed narrative review of the published literature found 146 studies that produced data. mortality rates 6%-19% relapse risks 10%-62%. Most patients achieved good...
Humans with monogenic inborn errors responsible for extreme disease phenotypes can reveal essential physiological pathways. We investigated germline mutations in GNAI2 , which encodes G αi2 a key component heterotrimeric protein signal transduction usually thought to regulate adenylyl cyclase–mediated cyclic adenosine monophosphate (cAMP) production. Patients activating had clinical presentations that included impaired immunity. Mutant cell migration and augmented responses T receptor (TCR)...
ABSTRACT Background Familial hereditary spastic paraplegia (HSP)‐ SPAST (SPG4) typically presents with a pure HSP phenotype. Objective The aim of this study was to delineate the genotypic and phenotypic spectrum children de novo HSP‐ . Methods This used systematic cross‐sectional analysis clinical molecular features. Results We report 40 patients heterozygous pathogenic variants in (age range: 2.2–27.7 years). identified 19 unique (16/40 carried same recurrent variant, p.Arg499His). Symptom...
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to pathognomonic molar tooth appearance brainstem cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, developmental delay varying degrees. In addition, subset patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, polydactyly. exhibits genetic heterogeneity, with mutations...
Twenty-one children with confirmed herpes simplex encephalitis were identified in the California Encephalitis Project. Noteworthy features included 6 (29%) patients an initial negative virus cerebrospinal fluid polymerase chain reaction test and 13 (59%) extratemporal lobe involvement by neuroimaging. Eleven cases <4 years of age, but all 4 fatal occurred adolescents.
Abstract Objectives Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures the other Egyptian with neonatal hypotonia, bradycardia, seizures, were evaluated for causative gene mutation. Methods Results Homozygosity mapping whole exome sequencing ( WES ) identified damaging homozygous variants in SCN 10A , namely...