Publications by authors named "D Moratto"
Multisystem inflammatory syndrome in children (MIS-C) has been reported in patients with inborn errors of immunity (IEI), providing insights into disease pathogenesis. Here, we present the first case of MIS-C in a child affected by Wiskott-Aldrich syndrome (WAS) gene mutation, elucidating underlying predisposing factors and the involved inflammatory pathways. Genetic analysis revealed a frameshift truncating variant in the WAS gene, resulting in WAS protein expression between mild and severe forms, despite a clinical phenotype resembling X-linked thrombocytopenia (XLT).
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- PI4KA-related disorder is marked by a variety of neurological and gastrointestinal issues, including spasticity, developmental challenges, and recurrent infections, with specific attention given to the impact on B-cell function and immunodeficiency in some patients. * -
- The study involved analyzing 13 patients with PI4KA variants, revealing common traits such as B-cell deficiency and hypogammaglobulinemia, alongside significant changes in B-cell subsets and functioning due to metabolic disruptions. * -
- Findings indicate that mutations in PI4KA lead to disturbances in lipid production and metabolic pathways in B cells, fostering mitochondrial dysfunction and abnormal immune responses, suggesting a critical role of PI4KA in B-cell differentiation and health. *
Article Synopsis
- The STAT1 gain-of-function syndrome leads to chronic mucocutaneous candidiasis and can also cause various other infections, autoimmune issues, and malignancies due to severe lymphopenia.
- In a study of seven patients with this condition, it was found that increased T lymphocyte apoptosis occurs, especially when stimulated, and treatment with the JAK inhibitor ruxolitinib showed promise in reducing this apoptosis and improving lymphopenia.
- The findings suggest that JAKinib therapy could be beneficial for treating not only chronic candidiasis and lymphopenia but also for managing increased interferon responses in patients with autoimmune or autoinflammatory symptoms.
Recent studies have characterized various mouse antigen-presenting cells (APCs) expressing the lymphoid-lineage transcription factor RORγt (Retinoid-related orphan receptor gamma t), which exhibit distinct phenotypic features and are implicated in the induction of peripheral regulatory T cells (Tregs) and immune tolerance to microbiota and self-antigens. These APCs encompass Janus cells and Thetis cell subsets, some of which express the AutoImmune REgulator (AIRE). RORγt MHCII type 3 innate lymphoid cells (ILC3) have also been implicated in the instruction of microbiota-specific Tregs.
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