Publications by authors named "Laire Schidlowski"
Background: This study was conducted to ascertain the most frequent symptoms of COVID-19 infection at first consultation in a pediatric cohort and to devise a predictive model for hospitalization.
Methods: This is a retrospective cross-sectional study of 1028 Brazilian patients aged <18 years with SARS-CoV-2 infection in a single reference hospital in the first year of the pandemic. Clinical, demographic, laboratory, and disease spectrum data were analyzed via multivariate logistic regression modeling to develop a predictive model of factors linked to hospitalization.
Article Synopsis
- In a study of 183 unvaccinated children hospitalized for COVID-19 pneumonia, 10.4% had autoantibodies that neutralized type I interferons (IFNs), specifically targeting IFN-α2 and IFN-ω in varying combinations.
- Among the children with autoantibodies, 3.8% neutralized higher levels of IFN-α2, while the rest had lower neutralization capabilities, and some uninfected children also displayed similar antibodies.
- The presence of these autoantibodies significantly increased the odds of developing severe COVID-19 pneumonia, particularly those neutralizing higher concentrations of IFN-α2 compared to those neutralizing IFN-ω.
Article Synopsis
- Patients with X-linked recessive deficiency of TLR7, a crucial immune sensor, struggle to recognize SARS-CoV-2 and produce necessary type I interferons, leading to severe pneumonia cases.
- A study included 22 unvaccinated individuals with MyD88 or IRAK-4 deficiencies from multiple countries, primarily affecting children and young adults, with a significant portion requiring hospitalization.
- The findings highlight that these genetic deficiencies, previously linked to bacterial infections, also significantly increase vulnerability to hypoxemic pneumonia caused by COVID-19, especially as patients age.
Article Synopsis
- - This study aimed to investigate the effects of SARS-CoV-2 infection on Brazilian patients with Inborn Errors of Immunity (IEI), focusing on their clinical outcomes and factors influencing the infection.
- - In a multicenter study of 121 patients, the majority experienced mild or asymptomatic cases, with serious outcomes primarily linked to older age and specific comorbidities (like bronchiectasis and cardiopathy) rather than the type of IEI itself.
- - Despite most infections being mild, the case fatality rate for these patients was higher than the general population, highlighting the need for targeted care in individuals with IEI.
COVID-19 comprises clinical outcomes of SARS-CoV-2 infection and is highly heterogeneous, ranging from asymptomatic individuals to deceased young adults without comorbidities. There is growing evidence that host genetics play an important role in COVID-19 severity, including inborn errors of immunity, age-related inflammation and immunosenescence. Here we present a brief review on the known order of events from infection to severe system-wide disturbance due to COVID-19 and summarize potential candidate genes and pathways.
View Article and Find Full Text PDFOculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer. In its non-syndromic form, OCA is associated with six genes and one chromosomal region.
View Article and Find Full Text PDF