Identification of biallelic OSMR variants in a patient with HIES. (A) Characteristic facies with coarse features and poor dentition. (B) Computed tomography of the chest with findings consistent with CCPA. A single pulmonary cavity (arrowheads) containing a “fungal ball” is present in the right upper lobe: the transverse picture is seen from below and the X ray is looking at the patient from the front, ie inverted right/left. Upper part: Axial view. Bottom part: Coronal view. (C) Table with genetic information on the OSMR variant identified in P1. (D and E) Immunoblot of OSMR in NHDFs from healthy controls (HCs) and patient (P1), bands were quantified by ImageJ (E). (F and G) FC of surface expressed OSMR in NHDFs from three healthy controls (HCs) and patient (P1) (F) with the mean of fluorescence intensities (MFI) plotted (G). Similar results from western blot and FC have been observed twice prior. Statistics were calculated using the unpaired t test. ** = P < 0.01. Source data are available for this figure: SourceData F1.