|
1
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
2
|
(HPO:0004332)
|
Abnormality of lymphocytes |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
3
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
4
|
(HPO:0001022)
|
Albinism |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
5
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
6
|
(HPO:0001874)
|
Abnormality of neutrophils |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
7
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
8
|
(HPO:0005352)
|
Severe T-cell immunodeficiency |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
9
|
(HPO:0002850)
|
IgM deficiency |
|
|
|
|
18 / 7739
|
|
10
|
(HPO:0006538)
|
Recurrent bronchopulmonary infections |
|
|
|
|
6 / 7739
|
|
11
|
(OMIM)
|
Recurrent bronchopulmonary infections due to Streptococcus pneumoniae |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Low peripheral neutrophil counts (absolute neutrophil count less than 500/microliter) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Neutrophil maturation in bone marrow intact |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Increased total number of CD19+ B cells |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Increased percentage of naive IgD+ IgM+ CD27- B cells |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Decreased percentage of IgD+ IgM+ CD27+ memory B cells |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Decreased serum IgM |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Low IgG in adolescence (2 of 4 affected individuals) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Decreased cytotoxic activity of CD8+ T cells |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
21
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|