|
1
|
(HPO:0000230)
|
Gingivitis |
|
|
|
|
31 / 7739
|
|
2
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
3
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
4
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
5
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
|
6
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
7
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
8
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
10
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
|
11
|
(HPO:0002847)
|
Impaired memory B-cell generation |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0002849)
|
Absence of lymph node germinal center |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0002959)
|
Impaired Ig class switch recombination |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0002961)
|
Dysgammaglobulinemia |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0003496)
|
Increased IgM level |
|
|
|
|
8 / 7739
|
|
16
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|
|
17
|
(HPO:0005419)
|
Decreased T cell activation |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0005479)
|
IgE deficiency |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0010280)
|
Stomatitis |
|
|
|
|
8 / 7739
|
|
20
|
(HPO:0012115)
|
Hepatitis |
|
|
|
|
24 / 7739
|
|
21
|
(HPO:0100765)
|
Abnormality of the tonsils |
|
|
|
|
10 / 7739
|
|
22
|
(OMIM)
|
Ulcerative stomatitis |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0200123)
|
Chronic hepatitis |
|
|
|
|
4 / 7739
|
|
24
|
(MedDRA:10036774)
|
Proctitis |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Neutropenia, chronic or cyclic |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Amemia |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Normal or increased IgM |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Serum IgA, IgG, and IgE severely deficient |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
B-cell count normal |
|
|
|
|
4 / 7739
|
|
31
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|