The common HAQ STING allele prevents clinical penetrance of COPA syndrome.

COPA syndrome, an autosomal-dominant inborn error of immunity, is nonpenetrant in ∼20% of individuals, with no known mediators of protection. Recent studies implicate STING in the pathogenesis of COPA syndrome. We show that the common HAQ STING allele mediates complete clinical protection.

Homologous recombination deficiency test validation in patients with high-grade advanced ovarian cancer.

Background: Along with mutation status, homologous recombination deficiency (HRD) testing is a prognostic and predictive biomarker for poly-ADP-ribose polymerase (PARP) inhibitor therapy indication in high-grade epithelial ovarian, fallopian tube, or peritoneal cancer. Approximately 50% of high-grade serous ovarian cancers exhibit HRD, even in the absence of germline or somatic 1/2 loss-of-function mutations. In this scenario, access to a validated diagnostic HRD test can optimize treatment selection and increase the effectiveness of the intervention.

[A Case of Ileal Cancer Treated with Multidisciplinary Therapy].

A 66-year-old man was suspected of having an intestinal obstruction caused by a tumor in the small intestine after a close examination of vomiting and abdominal pain. Intestinal decompression was performed using an ileus tube, and small bowel endoscopy revealed a circumferential type 2 tumor of the ileum and a poorly differentiated adenocarcinoma on biopsy. The patient was referred to our department with a diagnosis of primary ileal cancer(cT2N1M0, cStage ⅢA).

Binding mode-guided development of high-performance antibodies targeting site-specific posttranslational modifications.

Posttranslational modifications (PTMs) of proteins play critical roles in regulating many cellular events. Antibodies targeting site-specific PTMs are essential tools for detecting and enriching PTMs at sites of interest. However, fundamental difficulties in molecular recognition of both PTM and surrounding peptide sequence have hindered the efficient generation of highly sequence-specific anti-PTM antibodies.