|
1
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
|
3
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
|
|
51 / 7739
|
|
5
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
6
|
(HPO:0002110)
|
Bronchiectasis |
|
|
|
|
73 / 7739
|
|
7
|
(HPO:0011108)
|
Recurrent sinusitis |
|
|
|
|
30 / 7739
|
|
8
|
(HPO:0200124)
|
Chronic hepatitis due to cryptospridium infection |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Otitis, recurrent |
|
|
|
|
7 / 7739
|
|
10
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
11
|
(MedDRA:10016642)
|
Fibrosis |
|
|
|
|
9 / 7739
|
|
12
|
(MedDRA:10008604)
|
Cholangitis |
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
14
|
(HPO:0100806)
|
Sepsis |
|
|
|
|
48 / 7739
|
|
15
|
(OMIM)
|
Normal numbers of lymphocytes and NK cells |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Impaired B cell class-switching |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Decreased IgG |
|
|
|
|
5 / 7739
|
|
18
|
(OMIM)
|
Increased IgM |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Increased IgE Impaired NK cell activity |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Impaired T-cell proliferation to certain stimuli |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Defective IL21R-related signaling |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Cytokine defects |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
25
|
(HPO:0030151)
|
Cholangitis |
|
|
|
|
10 / 7739
|