Fig. 1.

A novel ORAI1 mutation associated with CRAC channelopathy. a Profile of patient body weight with World Health Organization (WHO) weight-for-age percentiles for girls (birth to 24 months) denoted in red. Body weight measurements are indicated as dots. b Neutrophil counts plotted over time. Infections and treatments are indicated above and below the graph respectively. Red dotted lines denote the reference range for neutrophil counts. UTI, urinary tract infection; GMCSF, granulocyte-macrophage colony-stimulating factor; IVIG, intravenous immunoglobulin. c Pedigree of the kindred. d mRNA and protein sequences of the ORAI1 mutation identified in the patient. e Representative traces and summary data of SOCE responses from PBMCs from patient, parent, or healthy donor. PBMCs were incubated in Ca²⁺-free media and treated with the ER ATPase blocker thapsigargin (Tg) to deplete Ca²⁺ stores. This is followed by perfusion with Ca²⁺-containing medium (2 mM, 2Ca) to stimulate and quantify SOCE (n = 4 measurements, mean ± SEM; p < 0.0001, one-way ANOVA). f Western blot to assess ORAI1 protein levels in PMBCs from patients, patient’s father (parent), and healthy donor (NC). α-Tubulin was used as a loading control. g ORAI1 mRNA expression in the patient, normal control (NC), and a parent. ORAI1 mRNA expression was normalized to house-keeping ribosomal protein RPLP0 expression and shows no difference between the patient, parent, or healthy donor. Mean + SEM, n = 3 technical replicates