Conditions / Immune
immunodeficiency 9
info · Immune
A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes
A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31.
Signs and symptoms
- Hypotonia
- Ectodermal dysplasia
- Recurrent infections
- Failure to thrive
- Heat intolerance
- Myopathy
- Gowers sign
- Hypoplasia of the thymus
- Proximal muscle weakness
- Gait disturbance
Also known as: CID due to ORAI1 deficiency; IMD9; combined immunodeficiency due to ORAI1 deficiency; immune dysfunction with T-cell inactivation due to calcium entry defect 1