Figure 6. Non-immunological phenotypes in patients and mice lacking SOCE.

A, Amelogenesis imperfecta type III in a patient with ORAI1-R91W mutation. The dental enamel is hypocalcified resulting in use-dependent loss of the enamel layer. Shown are deciduous teeth at 6 years of age. B, Muscular dysplasia in a patient with ORAI1-R91W mutation. Atrophic type II muscle fibers in ATPase staining of a muscle biopsy at age 5 years (reproduced with permission from [33]. C, Splenomegaly and lymphadneopathy in Stim1^f/f Stim2^f/f Cd4-Cre mice [58]. Mice also show leukocytic infiltration of lung and liver due to reduced numbers and impaired function of Foxp3⁺ regulatory T cells. A similar lymphoproliferative phenotype was observed in patients with STIM1 mutation [19].