|
1
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
3
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
|
4
|
(HPO:0001369)
|
Arthritis |
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
7
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
8
|
(HPO:0001890)
|
Autoimmune hemolytic anemia |
|
|
|
|
17 / 7739
|
|
9
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
|
|
51 / 7739
|
|
10
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
11
|
(HPO:0002099)
|
Asthma |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0002110)
|
Bronchiectasis |
|
|
|
|
73 / 7739
|
|
13
|
(HPO:0002583)
|
Colitis |
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
15
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
|
16
|
(HPO:0002850)
|
IgM deficiency |
|
|
|
|
18 / 7739
|
|
17
|
(HPO:0005263)
|
Gastritis |
|
|
|
|
9 / 7739
|
|
18
|
(HPO:0006528)
|
Chronic lung disease |
|
|
|
|
5 / 7739
|
|
19
|
(HPO:0011108)
|
Recurrent sinusitis |
|
|
|
|
30 / 7739
|
|
20
|
(HPO:0100759)
|
Clubbing of fingers |
|
|
|
|
40 / 7739
|
|
21
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
22
|
(HPO:0006530)
|
Interstitial pulmonary disease |
|
|
|
|
26 / 7739
|
|
23
|
(MedDRA:10017860)
|
Gastritis atrophic |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0002037)
|
Inflammation of the large intestine |
|
|
|
|
25 / 7739
|
|
25
|
(OMIM)
|
Clubbing of the fingers |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Idiopathic thrombocytopenia purpura |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
28
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
29
|
(OMIM)
|
Defect in B-cell differentiation |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0002960)
|
Autoimmunity |
|
|
|
|
78 / 7739
|
|
31
|
(OMIM)
|
Granuloma formation |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Deceased IgG |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Decreased switched memory B cells |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Decreased NK cells |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
T cells may be increased or decreased |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
37
|
(HPO:0001875)
|
Neutropenia |
rare [HPO:skoehler]
|
|
|
|
83 / 7739
|
|
38
|
(HPO:0001876)
|
Pancytopenia |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
39
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
40
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|