Cell Reports Medicine · Published 2026-07-01 · DOI 10.1016/j.xcrm.2026.102947
Cornelia D. Cudrici, Shubham Goel, Keiko Sakamoto, Seon-Pil Jin, Akiko Sekiguchi, Douglas R. Rosing, Rebecca Huffstutler, Dima A. Hammoud, Lee Shapiro, Daniella M. Schwartz, Sahana Manohar-Sindhu, Monica E. Taylor, Yue Zhang, Paul Schaughency, Edward W. Cowen, Sarfaraz Hasni, Mariana J. Kaplan, Heidi H. Kong, Manfred Boehm, Keisuke Nagao
Summary: Köhlmeier-Degos disease (Degos disease [DD]) is a rare vasculopathy with characteristic skin lesions and life-threatening gastrointestinal and cerebrovascular involvement. Although DD is often viewed as a thrombo-obliterative disorder, its immunopathology remains poorly defined. Here, single-cell RNA and T cell receptor sequencing of skin, blood, and cerebrospinal fluid from DD patients reveal pervasive type I and type II interferon activation, with an interferon-γ-biased program compared with systemic lupus erythematosus. Cytotoxic CD8A+ T cells show interferon-responsive activation and restricted clonotypic diversity, implicating cellular immunity in the DD inflammatory landscape. In a single-patient interventional study, JAK inhibition with ruxolitinib is associated with suppression of interferon-responsive programs, improvement of cutaneous inflammation, and stabilization of neurological disease. These findings support DD as an interferon-driven inflammatory vasculopathy and provide a rationale for further evaluation of interferon-JAK-STAT signaling. This study has been registered at ClinicalTrials.gov (NCT05998395).
Abstract from DOAJ. Public domain (CC0 1.0).
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Cudrici, C., Goel, S., Sakamoto, K., et al. (2026). Köhlmeier-Degos disease is an interferonopathy characterized by type I and II interferon-driven inflammatory vasculopathy. Cell Reports Medicine. https://doi.org/10.1016/j.xcrm.2026.102947