Maribel Aranda‐Guillén
A5036477579- Adrenal Hormones and Disorders
- Immunodeficiency and Autoimmune Disorders
- Hormonal Regulation and Hypertension
- Blood disorders and treatments
- Pituitary Gland Disorders and Treatments
- Diabetes and associated disorders
- Parvovirus B19 Infection Studies
- Systemic Lupus Erythematosus Research
- Sexual Differentiation and Disorders
- Celiac Disease Research and Management
- Congenital Diaphragmatic Hernia Studies
- Growth Hormone and Insulin-like Growth Factors
- Immune Cell Function and Interaction
- Platelet Disorders and Treatments
- Inflammasome and immune disorders
- SARS-CoV-2 and COVID-19 Research
- Kawasaki Disease and Coronary Complications
- Stress Responses and Cortisol
- Skin and Cellular Biology Research
- T-cell and B-cell Immunology
- interferon and immune responses
- Intramuscular injections and effects
- Autoimmune Bullous Skin Diseases
- Immune Response and Inflammation
- Heparin-Induced Thrombocytopenia and Thrombosis
Karolinska Institutet
2021-2024
Uppsala University
2022
Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report patients NIK or RELB deficiency, specific of autosomal-dominant NF-κB2 also have neutralizing against IFNs and are at higher risk getting pneumonia. In these found only in individuals who heterozygous for variants associated both...
Abstract Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report first genome-wide association study on AAD, which identifies nine independent risk loci ( P < 5 × 10 −8 ). In addition to implicated in lymphocyte function development shared with other diseases such as HLA , BACH2 PTPN22 CTLA4 we associate two protein-coding alterations Regulator...
Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs) underlie critical COVID-19 pneumonia in at least 15% the patients, while causes multisystem inflammatory syndrome children (MIS-C) remain elusive.To detect causal genetic variants very rare cases with concomitant MIS-C.Whole exome sequencing was performed, impact candidate gene investigated. Plasma levels cytokines, specific antibodies against virus, IFNs were also measured.We report a 3-year-old child who died...
Coronavirus disease 2019 (COVID-19) exhibits a wide spectrum of clinical manifestations, ranging from asymptomatic to critical conditions. Understanding the mechanism underlying life-threatening COVID-19 is instrumental for prevention and treatment in individuals with high risk.
Most severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-infected individuals are asymptomatic or only exhibit mild disease. In about 10% of cases, the infection leads to hypoxemic pneumonia, although it is much more rare in children.
Abstract Type I interferons act as gatekeepers against viral infection, and autoantibodies that neutralize these signaling molecules have been associated with COVID-19 severity adverse reactions to the live-attenuated yellow fever vaccine. On this background, we sought examine whether type were events following vaccination. Our nationwide analysis suggests interferon not after mRNA or viral-vector vaccines.
Autoimmune Addison’s disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide association study (GWAS) has shown that common variants near immune-related genes, which mostly encode proteins participating in immune response, affect risk developing this condition. However, little known about contribution copy number variations (CNVs) to AAD susceptibility. We used genotyping data from Norwegian and Swedish...
Autoimmune Addison's disease (AAD) entails a chronic adrenal insufficiency and is associated with an increased risk of severe infections. It is, however, unknown how patients AAD were affected by the coronavirus 2019 (COVID-19) pandemic 2020-2021. This study was aimed at investigating incidence COVID-19 in Sweden, self-adjustment medications during disease, impact on social aspects, treatment hospitalization. Additionally, we investigated if there any possible factors for infection...
Autoimmune Addison's disease (AAD) is the most common cause of primary adrenal insufficiency (PAI). Despite its exceptionally high heritability, tools to estimate susceptibility in individual patients are lacking. We hypothesized that polygenic risk score (PRS) for AAD could help investigate PAI pathogenesis pediatric patients.We here constructed and evaluated a PRS 1223 seropositive cases 4097 controls. To test clinical utility, we reevaluated 18 patients, whose whole genome also sequenced....
While Coronavirus disease 2019 (COVID-19) vaccines have proven to be both effective and generally safe, rare but severe adverse events following immunization (AEFIs) are described. Autoantibodies platelet factor-4 associated with catastrophic thrombotic AEFIs, comprehensive investigations of other autoantibodies lacking. We aimed detect describe targeting coagulation-related proteins in a population-wide cohort (SWEDEGENE) including AEFIs attributed COVID-19 Sweden. Subjects were recruited...
Autoantigen discovery is a critical challenge for the understanding and diagnosis of autoimmune diseases. While autoantibody markers in current clinical use have been identified through studies focused on individual disorders, we postulated that reverse approach starting with putative autoantigen to explore multiple disorders might hold promise. We here targeted epidermal protein transglutaminase 1 (TGM1) as member family prone attack. By screening sera from patients various acquired skin...
Patients with inborn errors of the alternative NF-κB pathway have low thymic AIRE expression, leading to development auto-Abs neutralizing type I IFNs, and severe viral diseases.
Abstract Objective Autoantibodies against the adrenal enzyme 21-hydroxylase is a hallmark manifestation in autoimmune Addison's disease (AAD). Steroid encoded by CYP21A2, which located human leucocyte antigen (HLA) region together with highly similar pseudogene CYP21A1P. A high level of copy number variation seen for 2 genes, and therefore, we asked whether genetic CYP21 genes associated AAD. Design Case-control study on patients AAD healthy controls. Methods Using next-generation DNA...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
The authors report a genome-wide association study (GWAS) of autoimmune Addisons disease (AAD) in 1223 cases (defined as adrenal failure plus positive serum autoantibodies against 21-hydroxylase) and 4097 healthy controls. Patients with APS-1 were identified excluded. They 9 significant genomic loci explained 3541% the additive genetic heritability AAD.
Brief summary: The authors designed a polygenic risk score (PRS) to aid in estimating disease susceptibility patients with autoimmune Addisons (AAD).