A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype
To the Editor,
Loss of function or null mutations of stromal interaction molecule 1 (STIM1) are known to cause early-onset combined immunodeficiency (CID) disease with recurrent and chronic infections, autoimmunity, haemolytic anemia, ectodermal dysplasia, muscular weakness, and myalgia . STIM1 and ORAI1 form the calcium release-activated calcium (CRAC) channels and are involved in calcium signaling, which is especially important in T cells for activation, proliferation, and cytokine production . ORAI1 forms the pore in the plasma membrane, and STIM1 is a calcium sensor protein that activates the ORAI1 when the endoplasmic reticulum (ER) Ca2+ stores are depleted.
STIM1-deficient patients have impaired T cells and NK cell function, but usually a normal distribution of the major immune cell types, including T cells, B cells, and natural killer (NK) cells with the T cell repertoire that is normally comparable with healthy individuals . STIM1 deficiency results in no...
This research is supported by a grant from the CSL Behring and by the National Institute for Health Research (NIHR) Leeds Biomedical Research Centre.
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Conflict of Interest
The authors declare that they have no conflicts of interest.
The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health.
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