|
1
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
3
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
|
4
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
5
|
(HPO:0002850)
|
IgM deficiency |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0006515)
|
Interstitial pneumonitis |
|
|
|
|
13 / 7739
|
|
7
|
(HPO:0010783)
|
Erythema |
|
|
|
|
138 / 7739
|
|
8
|
(HPO:0011950)
|
Bronchiolitis |
|
|
|
|
8 / 7739
|
|
9
|
(HPO:0100279)
|
Ulcerative colitis |
rare [HPO:skoehler]
|
|
|
|
5 / 7739
|
|
10
|
(HPO:0100658)
|
Cellulitis |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0000495)
|
Recurrent corneal erosions |
|
|
|
|
20 / 7739
|
|
12
|
(HPO:0100583)
|
Corneal perforation |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0200020)
|
Corneal erosion |
rare [HPO:skoehler]
|
|
|
|
12 / 7739
|
|
14
|
(MedDRA:10015943)
|
Eye inflammation |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Corneal blisters (1 patient) |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
17
|
(HPO:0005425)
|
Recurrent sinopulmonary infections |
|
|
|
|
10 / 7739
|
|
18
|
(OMIM)
|
Respiratory bronchiolitis |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Blistering skin lesions, recurrent |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Erythematous plaques |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Vesiculopustular lesions |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Inflammatory infiltrate of neutrophils, lymphocytes, eosinophils, and histiocytes |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Impaired B cell memory cells |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Lack of autoantibodies |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Decreased numbers of NK T cells |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|