|
Consanguinity
|
Y
|
Y
|
13/22 (59%)
|
|
IUGR (HP:0001511)
|
Y
|
Y
|
23/25 (92%)
|
|
Preterm <37 wk (HP:0001622)
|
Y
|
N
|
12/25 (48%)
|
|
Dysmorphism
|
|
Prominent forehead (HP:0011220)
|
Y
|
Y
|
20/20 (100%)
|
|
Hypertelorism (HP:0000316)
|
N
|
N
|
20/20 (100%)
|
|
Hypo/pigmented skin rash +/− erythroderma
|
Y
|
Y
|
6/20 (30%)
|
|
Unusual hair (Includes trichorrhexis nodosa, HP:0009886)
|
Unknown (shaved)
|
Y (‘sticking out’)
|
20/20 (100%)
|
|
Congenital heart defect (Abnormal heart morphology, HP:0001627)
|
N
|
N
|
5/20 (25%)
|
|
Musculoskelelal abnormality (Camptodactyly HP:0005617)
|
N
|
Y (camptodactyly)
|
1/12 (8%; Perthes disease)
|
|
Urinary tract abnormality (Hypospadias, HP:0000047)
|
N
|
Y (hypospadias)
|
3/20 (15%)
|
|
Gastrointestinal
|
|
Chronic diarrhea (HP:0002028)
|
N
|
Y
|
24/25 (96%)
|
|
Failure to thrive (HP:0001508)
|
Y
|
Y (needed TPN)
|
25/25 (100%)
|
|
Villous atrophy on biopsy of small intestine (HP:0011473)
|
-
|
Y (patchy)
|
21/21 (100%)
|
|
Liver dysfunction or fibrosis
|
N
|
N
|
9/17 (53%, all with liver fibrosis)
|
|
Outcome
|
|
Neurodevelopmental delay (HP:0012758)
|
?
|
Y
|
10/16 (63%)
|
|
Death
|
Y
|
Y
|
12/25 (48%)
|
|
If deceased, age at death
|
3 months
|
5 months
|
2-96 months
|
|
Immunological investigations {reference range}
|
|
Lymphocyte count
|
2.53 {2.0–17.0 × 109/l}
|
4.17 {2.0–17.0 × 109/l}
|
Where reported was normal
|
|
% B-cells (CD19)
|
24% {19–31%}
|
20% {19–31%}
| |
|
% T-cells (CD3)
|
73% {58–67%}
|
72% {58–67%}
|
Weak T-cell proliferative response in some cases to antigens, not mitogens
|
|
% T-helper cells (CD4)
|
55% {38–50%}
|
39% {38–50%}
| |
|
% T-supressor cells (CD8)
|
16% {18–25%}
|
33% {18–25%}
| |
|
% Natural killer cells (CD16, 56) (Abnormality of NK cells HP:0012176)
|
3% {8–17%}
|
8% {8–17%}
| |
|
IgG level (IgG deficiency HP: 0004315)
|
<1.41 g/l {3.0–10.0 g/l}
|
1.96 g/l {3.0–10.0 g/l}
|
11/20 (55%) had ‘low immunoglobulins’. Other often had deficient vaccine response. Hence THE-S now in antibody deficiency group of the 2015 IUIS Primary Immunodeficiency classification
|
|
IgA level (IgA deficiency HP:0002720)
|
0.44 g/l {0.1–0.7 g/l}
|
<0.25 g/l {0.1–0.7 g/l}
|
|
IgM level
|
0.92 g/l {0.2–1.10 g/l}
|
1.19 g/l {0.2–1.10 g/l}
|
