%0 Journal Article
%T ORAI1 Mutation in a Child with Primary Immunodeficiency-9
%A Michael O. Daines
%A Snehal Patel
%A Tara F. Carr
%J Journal of Allergy and Clinical Immunology
%D 2017
%R 10.1016/j.jaci.2016.12.010
%X Primary immunodeficiency-9 is an autosomal recessive disorder due to defects in the
ORAI1 gene. ORAI1 encodes for calcium release-activated calcium (CRAC) channels which
are essential for antigen induced gene expression for T cell activation and proliferation
via the NFAT-driven pathway and T cell migration and homing to lymph nodes. Lymphocyte
development is preserved while immune function is dramatically impaired. Patients
with ORAI1 mutation are also at a higher risk of developing autoimmunity, ectodermal
dysplasia, and muscular hypotonia.
%U https://www.jacionline.org/article/S0091-6749(16)31528-7/abstract