Table 1 Phenotypic comparison of both siblings to literature

Consanguinity

Y

Y

13/22 (59%)

IUGR (HP:0001511)

Y

Y

23/25 (92%)

Preterm <37 wk (HP:0001622)

Y

N

12/25 (48%)

 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%)

 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)

 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

 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}