|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0001954)
|
Episodic fever |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
5
|
(HPO:0011107)
|
Recurrent aphthous stomatitis |
|
|
|
|
13 / 7739
|
|
6
|
(HPO:0007476)
|
Anhidrotic ectodermal dysplasia |
|
|
|
|
4 / 7739
|
|
7
|
(OMIM)
|
Myopathy, nonprogressive |
|
|
|
|
3 / 7739
|
|
8
|
(OMIM)
|
Impaired T cell activation |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Impaired T cell proliferative response |
|
|
|
|
2 / 7739
|
|
10
|
(MedDRA:10025260)
|
Lymphocyte count normal |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Normal serum immunoglobulin levels |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Impaired seroconversion of immunoglobulins in response to vaccination |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Decreased T cell production of cytokines |
|
|
|
|
2 / 7739
|