1
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|
2
|
(HPO:0000225)
|
Gingival bleeding |
|
|
|
|
28 / 7739
|
3
|
(HPO:0000246)
|
Sinusitis |
|
|
|
|
73 / 7739
|
4
|
(HPO:0000388)
|
Otitis media |
|
|
|
|
28 / 7739
|
5
|
(HPO:0000421)
|
Epistaxis |
|
|
|
|
85 / 7739
|
6
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
7
|
(HPO:0001287)
|
Meningitis |
|
|
|
|
46 / 7739
|
8
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
9
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
10
|
(HPO:0001888)
|
Lymphopenia |
|
|
|
|
43 / 7739
|
11
|
(HPO:0001891)
|
Iron deficiency anemia |
|
|
|
|
22 / 7739
|
12
|
(HPO:0001983)
|
Reduced lymphocyte surface expression of CD43 |
|
|
|
|
2 / 7739
|
13
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
14
|
(HPO:0002037)
|
Inflammation of the large intestine |
|
|
|
|
25 / 7739
|
15
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
16
|
(HPO:0002783)
|
Recurrent lower respiratory tract infections |
|
|
|
|
8 / 7739
|
17
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
18
|
(HPO:0002848)
|
Specific anti-polysaccharide antibody deficiency |
|
|
|
|
2 / 7739
|
19
|
(HPO:0002850)
|
IgM deficiency |
|
|
|
|
18 / 7739
|
20
|
(HPO:0002963)
|
Abnormal delayed hypersensitivity skin test |
|
|
|
|
2 / 7739
|
21
|
(HPO:0002971)
|
Absent microvilli on the surface of peripheral blood lymphocytes |
|
|
|
|
2 / 7739
|
22
|
(HPO:0003010)
|
Prolonged bleeding time |
|
|
|
|
88 / 7739
|
23
|
(HPO:0003212)
|
Increased IgE level |
|
|
|
|
13 / 7739
|
24
|
(HPO:0003261)
|
Increased IgA level |
|
|
|
|
12 / 7739
|
25
|
(HPO:0003565)
|
Elevated erythrocyte sedimentation rate |
|
|
|
|
31 / 7739
|
26
|
(HPO:0005310)
|
Large vessel vasculitis |
|
|
|
|
2 / 7739
|
27
|
(HPO:0005537)
|
Decreased mean platelet volume |
|
|
|
|
7 / 7739
|
28
|
(HPO:0011944)
|
Small vessel vasculitis |
|
|
|
|
3 / 7739
|
29
|
(OMIM)
|
Small and large vessel vasculitis |
|
|
|
|
2 / 7739
|
30
|
(OMIM)
|
Moderately depressed antibody response to polysaccharide antigens |
|
|
|
|
2 / 7739
|
31
|
(OMIM)
|
Decreased CD3+ cells subset |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Decreased CD4+ cells subset |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Decreased CD8+ cells subset |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Normal IgG levels |
|
|
|
|
2 / 7739
|
35
|
(OMIM)
|
Raised C-reactive protein |
|
|
|
|
1 / 7739
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
38
|
(HPO:0040184)
|
Oral bleeding |
|
|
|
|
2 / 7739
|