A new gene causing severe allergic disease identified

Heikki Koistinen, the group leader of the Metabolism research group at Minerva Foundation Institute for Medical Research.

Investigators from Group of Metabolism at Minerva Foundation Institute for Medical Research have participated in a collaboration that establishes biallelic OSMR deficiency as a new primary atopic disorder. 

Oncostatin M (OSM) receptor beta (OSMRβ), encoded by OSMR, is a cytokine receptor subunit required for signaling by OSM and IL-31. The investigators identified several affected individuals with germline biallelic loss-of-function variants in OSMR. Affected people shared a phenotype of early-onset, severe, widespread atopic dermatitis with peripheral eosinophilia and markedly elevated serum IgE. All patient-derived OSMRβ variants failed to localize to the cell surface, resulting in selective loss of OSM-dependent signaling. Further functional experiments confirmed a causal loss-of-function mechanism. This study brought together clinical observations, genomics, immunology, and functional biology under the leadership of an international  group of dedicated researchers. The study was published on May 28, 2026, in Journal of Human Immunity.

Read the study here: https://rupress.org/jhi/article/2/4/e20260067/282637/Human-germline-biallelic-loss-of-function-OSMR