|
1
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0001904)
|
Autoimmune neutropenia |
rare [HPO:skoehler]
|
|
|
|
5 / 7739
|
|
5
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
6
|
(HPO:0002110)
|
Bronchiectasis |
|
|
|
|
73 / 7739
|
|
7
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
8
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
11
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
|
12
|
(HPO:0002837)
|
Recurrent bronchitis |
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0002850)
|
IgM deficiency |
|
|
|
|
18 / 7739
|
|
14
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|
|
15
|
(HPO:0005435)
|
Impaired T cell function |
|
|
|
|
9 / 7739
|
|
16
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
|
17
|
(HPO:0010976)
|
B lymphocytopenia |
|
|
|
|
8 / 7739
|
|
18
|
(HPO:0011108)
|
Recurrent sinusitis |
|
|
|
|
30 / 7739
|
|
19
|
(OMIM)
|
Enteritis, recurrent |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
Herpes infections |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
22
|
(OMIM)
|
Normal or reduced numbers of B cells |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Defective antibody production |
|
|
|
|
6 / 7739
|
|
24
|
(OMIM)
|
Normal number of T cells |
|
|
|
|
8 / 7739
|
|
25
|
(OMIM)
|
Variable degree of T cell dysfunction |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Markedly reduced IgA levels |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Markedly reduced IgG levels |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|