Haploinsufficiency of A20 (HA20) is a primary immune regulation disease caused by heterozygous loss-of-function variants in TNFAIP3, resulting in unchecked inflammatory signaling. HA20 is a highly heterogeneous disorder with overlapping features of autoinflammation, autoimmunity, immunodeficiency, a…
Recent updates in human leukocyte antigen B27-associated uveitis.
There has been progressive understanding in etiopathogenesis, clinical presentation, and effective treatment of anterior uveitis (AU) over the years. Sudden onset, symptomatic acute anterior uveitis (AAU) in a young adult, often male, classically arouses suspicion for human leukocyte antigen (HLA) B…
Granulomatous Diseases of the CNS: Aetiology, Neuroradiological Features and Clinical Findings.
Granulomatous disorders of the central nervous system (CNS) encompass a highly heterogeneous group of diseases with autoinflammatory, autoimmune, infectious, proliferative-neoplastic, foreign body-related, or drug-induced aetiologies. Neuroimaging plays a pivotal role, particularly with re…
Attraction of nocturnal scarab beetles by unusual floral volatiles in a Banksia (Proteaceae) with functionally diverse pollinators.
Pollination by beetles has evolved multiple times in flowering plants but with relatively few plant species adapted specifically to pollination by scarab beetles (Coleoptera: Scarabaeidae). However, some plant species may produce floral scents and offer floral rewards that attract scarabs alongside…
VEXAS syndrome: a comprehensive clinicopathologic and genetic analysis of a predominantly Indian cohort.
VEXAS syndrome is a recently recognized, acquired monogenic adult onset hemato-inflammatory syndrome characterized by somatic mutations within the UBA1 gene. The acronym VEXAS stands for vacuoles, E1 enzyme, X-linked inheritance, autoinflammatory tendencies, and somatic mutations. It presents as a s…
Shared genetic risk between functional somatic syndromes, internalizing disorders, and immune-mediated diseases: a twin-sibling study.
Functional somatic syndromes frequently co-occur with internalizing disorders such as anxiety disorders and major depressive disorder. Both show familial associations with immune-mediated diseases. Here, we estimate genetic and environmental contributions to functional somatic syndromes and their ov…
The homozygous founder Psmb8 variant of Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome causes panniculitis-associated lipoatrophy and a shortened lifespan in mice.
Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome (NNS/PRAAS) is a hereditary autoinflammatory disease. Clinically, NNS/PRAAS is characterized by periodic fever, skin rash, partial lipo-muscular atrophy, and joint contractures. Among PRAAS, NNS, is genetically characterized b…