|
1
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
2
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
|
|
51 / 7739
|
|
5
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
6
|
(HPO:0002099)
|
Asthma |
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0005384)
|
Defective B cell activation |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0005419)
|
Decreased T cell activation |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0005425)
|
Recurrent sinopulmonary infections |
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
13
|
(OMIM)
|
Herpes simplex virus infection, mucocutaneous |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Defective CD95-induced apoptosis of peripheral blood lymphocytes |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
No response to pneumococcal vaccination |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Defective natural killer cell (NK) activation |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Decreased cellular caspase-8 levels |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|