|
1
|
(HPO:0001287)
|
Meningitis |
|
|
|
|
46 / 7739
|
|
2
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
4
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
5
|
(HPO:0002733)
|
Abnormality of the lymph nodes |
|
|
|
|
3 / 7739
|
|
6
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0002965)
|
Cutaneous anergy |
|
|
|
|
7 / 7739
|
|
8
|
(HPO:0003139)
|
Panhypogammaglobulinemia |
|
|
|
|
6 / 7739
|
|
9
|
(HPO:0005214)
|
Intestinal obstruction |
|
|
|
|
35 / 7739
|
|
10
|
(OMIM)
|
Undetectable/absent peripheral lymph nodes |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Markedly reduced CD3+ proportion |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Increased proportion of CD19+ B cells |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Intrinsic B cell defect |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Markedly reduced numbers of natural killer cells |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Absent natural killer cell cytotoxicity |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Severely reduced proliferative response to mitogens, antigens, and alloantigens |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Absent delayed hypersensitivity skin test |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0004430)
|
Severe combined immunodeficiency |
|
|
|
|
16 / 7739
|