|
1
|
(HPO:0000976)
|
Eczematoid dermatitis |
|
|
|
|
22 / 7739
|
|
2
|
(HPO:0001400)
|
Hepatic abscesses due to immunodeficiency |
|
|
|
|
4 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
5
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
6
|
(HPO:0002723)
|
Absence of bactericidal oxidative 'respiratory burst' in phagocytes |
|
|
|
|
4 / 7739
|
|
7
|
(HPO:0002724)
|
Recurrent Aspergillus infections |
|
|
|
|
4 / 7739
|
|
8
|
(HPO:0002726)
|
Recurrent Staphylococcus aureus infections |
|
|
|
|
5 / 7739
|
|
9
|
(HPO:0002740)
|
Recurrent E. coli infections |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0002741)
|
Recurrent Serratia marcescens infections |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0002742)
|
Recurrent Klebsiella infections |
|
|
|
|
4 / 7739
|
|
12
|
(HPO:0002755)
|
Osteomyelitis due to immunodeficiency |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0002840)
|
Lymphadenitis |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0002842)
|
Recurrent Burkholderia cepacia infections |
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0002955)
|
Granulomatosis |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0003203)
|
Negative nitroblue tetrazolium reduction test |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0003206)
|
Decreased activity of NADPH oxidase |
|
|
|
|
8 / 7739
|
|
18
|
(HPO:0003553)
|
Cellulitis due to immunodeficiency |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0005224)
|
Rectal abscess |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0005406)
|
Recurrent bacterial skin infections |
|
|
|
|
7 / 7739
|
|
21
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
|
22
|
(HPO:0007417)
|
Discoid lupus erythematosus |
|
|
|
|
6 / 7739
|
|
23
|
(OMIM)
|
Pneumonia due to immunodeficiency |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Perirectal abscesses due to immunodeficiency |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Dermatitis, infectious, due to immunodeficiency Impetigo |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Discoid lupus in carriers or adults with mild disease |
|
|
|
|
4 / 7739
|
|
27
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
|
|
75 / 7739
|
|
28
|
(HPO:0002841)
|
Recurrent fungal infections |
|
|
|
|
16 / 7739
|
|
29
|
(OMIM)
|
Abscess formation in any organ |
|
|
|
|
4 / 7739
|
|
30
|
(MedDRA:10003486)
|
Aspergillus infections |
|
|
|
|
4 / 7739
|
|
31
|
(MedDRA:10074171)
|
Aspergillus infection |
|
|
|
|
4 / 7739
|
|
32
|
(MedDRA:10023455)
|
Klebsiella infections |
|
|
|
|
4 / 7739
|
|
33
|
(MedDRA:10061259)
|
Klebsiella infection |
|
|
|
|
4 / 7739
|
|
34
|
(OMIM)
|
Staphylococcus aureus infections |
|
|
|
|
4 / 7739
|
|
35
|
(OMIM)
|
Burkholderia cepacia infections |
|
|
|
|
4 / 7739
|
|
36
|
(OMIM)
|
Serratia marcescens infections |
|
|
|
|
4 / 7739
|
|
37
|
(OMIM)
|
Tissue biopsy shows granulomas |
|
|
|
|
4 / 7739
|
|
38
|
(OMIM)
|
Biopsy shows lipid-laden macrophages |
|
|
|
|
4 / 7739
|
|
39
|
(OMIM)
|
Presence of cytochrome b(-245) |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Deficiency or absence of p47-phox protein (type I) |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
42
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|