|
1
|
(HPO:0000388)
|
Otitis media |
|
|
|
|
28 / 7739
|
|
2
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
3
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
4
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
6
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0005379)
|
Severe T lymphocytopenia |
|
|
|
|
4 / 7739
|
|
8
|
(HPO:0005390)
|
Recurrent opportunistic infections |
|
|
|
|
4 / 7739
|
|
9
|
(HPO:0008866)
|
Failure to thrive secondary to recurrent infections |
|
|
|
|
3 / 7739
|
|
10
|
(OMIM)
|
Candida albicans infection |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Thrush |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Recurrent acute pneumonia |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
Normal or elevated numbers of functional natural killer cells (NK) |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Normal or elevated number of peripheral blood B cells |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Serum immunoglobulins may be absent, normal, or increased |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0004430)
|
Severe combined immunodeficiency |
|
|
|
|
16 / 7739
|