|
1
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
2
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0005387)
|
Combined immunodeficiency |
|
|
|
|
5 / 7739
|
|
4
|
(HPO:0005403)
|
T lymphocytopenia |
|
|
|
|
10 / 7739
|
|
5
|
(HPO:0010976)
|
B lymphocytopenia |
|
|
|
|
8 / 7739
|
|
6
|
(OMIM)
|
Granulomas, non-infectious |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Granulomas can appear on skin, tongue, lungs, or other tissues |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
9
|
(OMIM)
|
Lack of thymus on ultrasound |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Decreased numbers of B cells |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Decreased numbers of T cells |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Defective T cell function |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Residual RAG1 and RAG2 activity |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
15
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|