Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

Thymic and T-cell intrinsic critical roles associated with Severe Combined Immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.

Background: Heterozygous immunoproteasome subunit beta-type 10 (PSMB10) mutations can cause severe combined immunodeficiency (SCID) and Omenn syndrome (OS). Hematopoietic stem cell transplantation in these patients is associated with severe complications and poor immune reconstitution, often resulting in death.

Objective: To perform immunological and molecular characterization of an infant with a PSMB10 heterozygous variant.

Machine Learning for Mental Health: Applications, Challenges, and the Clinician's Role.

Purpose Of Review: This review aims to evaluate the current psychiatric applications and limitations of machine learning (ML), defined as techniques used to train algorithms to improve performance at a task based on data. The review emphasizes the clinician's role in ensuring equitable and effective patient care and seeks to inform mental health providers about the importance of clinician involvement in these technologies.

Recent Findings: ML in psychiatry has advanced through electronic health record integration, disease phenotyping, and remote monitoring through mobile applications.