| TMEM142 deficiency; Ca++ Channel deficiency |
Failure to thrive; recurrent aphthous stomatitis; muscular hypotonia; myopathy, nonprogressive; recurrent infections; impaired T cell activation; impaired T cell proliferative response; lymphocyte count normal; normal serum immunoglobulin levels; impaired seroconversion of immunoglobulins in response to vaccination; decreased T cell production of cytokines; fever, episodic; anhidrotic ectodermal dysplasia; autoimmune disease |
Combined T-cell and B-cell immunodeficiencies |
Autosomal recessive |