Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.

Purpose: To report clinical and genetic features including long-term full-field electroretinography (FF-ERG) findings of a patient with cone dystrophy with supernormal rod responses (CDSRR).

Methods: Ophthalmological medical records including FF-ERG were retrospectively reviewed. Genetic analysis using whole-exome sequencing (WES) was performed.

Successful treatment of cyclosporine-A-resistant cytophagic histiocytic panniculitis with tacrolimus.

A 34-year-old woman with discoid lupus erythematosus and lupus profundus was admitted to our hospital showing signs of a fever, malaise, and abdominal swelling. Diagnosis of cytophagic histiocytic panniculitis (CHP) was made based on lobular panniculitis with a hemophagocytosis. Treatment with high doses of prednisolone combined with cyclosporine A (CsA) was not effective enough.

Rac GTPases are involved in development, survival and homeostasis of T cells.

Rac GTPases consist of Rac1, 2 and 3, and each of them have redundant and differential functions. Rac1 is the most ubiquitously and abundantly expressed of the three and has been shown to work as a "molecular switch" in various signal transduction pathways. Although Rac1 and Rac2 are both activated by TCR ligation, little is known about the function of Rac GTPases in the development and activation of T cells.