|
1
|
(HPO:0001541)
|
Ascites |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|
|
2
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
3
|
(HPO:0001915)
|
Aplastic anemia |
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|
|
4
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
6
|
(HPO:0002665)
|
Lymphoma |
rare [HPO:skoehler]
|
|
|
|
60 / 7739
|
|
7
|
(HPO:0005526)
|
Lymphoid leukemia |
|
|
|
|
4 / 7739
|
|
8
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
10
|
(HPO:0005523)
|
Lymphoproliferative disorder |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0012156)
|
Hemophagocytosis |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
13
|
(OMIM)
|
Decreased T cell-dependent antibody production |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Defective CD8+ T cell function |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Lack of CD27 expression on lymphocytes |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Decreased NK levels (in some patients) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Systemic inflammatory response (in some patients) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Hemophagocytic lymphohistiocytosis |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Increased susceptibility to EBV infection |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Persistent EBV viremia |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased fibrinogen |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|