TDP43 autoregulation gives rise to dominant negative isoforms that are tightly controlled by transcriptional and post-translational mechanisms.

The nuclear RNA-binding protein TDP43 is integrally involved in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Previous studies uncovered N-terminal TDP43 isoforms that are predominantly cytosolic in localization, prone to aggregation, and enriched in susceptible spinal motor neurons. In healthy cells, however, these shortened (s)TDP43 isoforms are difficult to detect in comparison to full-length (fl)TDP43, raising questions regarding their origin and selective regulation.

The Spectrum of Cutaneous Granulomatous Inflammation and Detection of Rubella Virus in Skin Biopsies of Patients With Common Variable Immune Deficiency.

Background: There is a known association between common variable immunodeficiency (CVID) and granulomas in multiple organ systems, including the skin, lung, liver, and spleen. Rubella virus has also been detected within cutaneous granulomas in both immunocompetent and immunocompromised hosts. We present a retrospective case series of patients with CVID and granulomatous skin disease and describe the spectrum of clinical and histopathologic features, including the status of rubella virus in the cutaneous granulomas.

Quantifying Mast Cell and Eosinophil Cellular Density in Skin Biopsy Tissue From Adults With Maculopapular Cutaneous Mastocytosis as Compared With Urticaria and Normal Skin: A Retrospective Histopathologic Study.

Background: Maculopapular cutaneous mastocytosis (MPCM) is a rare disorder characterized by a pathologic accumulation of mast cells in the skin, which may or may not be accompanied by systemic mastocytosis. Diagnosis of MPCM on skin biopsy can be challenging because the findings may be subtle. Although mast cell density in MPCM has been reported, data informing a proposed cutoff for diagnosis and diagnostic criteria are limited.