Supplemental Table 1. Hematology and biochemistry in patients case 1 and case 2

WBC / S / L / E / Hb / MCV / PLT / BUN / Cr / AST / ALT / CRP
Case 1 at 3M / 6500 / 29.3 / 62.1 / 9.3 / 11.9 / 90.0 / 70 / 24.4 / 0.34 / 67 / 70 / 7.6
Case 2 at 5M / 26800 / 77.5 / 17.5 / 0 / 9.4 / 82.4 / 365 / 8.2 / 1.0 / 23 / 32 / 29.7
Normal by age / 6030-21000 / 28-76 / 15-70 / >2 / 9-12 / 75-97 / >15 / 5-20 / 0.3-1.0 / 9-80 / 13-45 / <5

Values outside the normal range were in bold and italics.

Supplemental Table 2. Lymphocyte subsets and immunoglobulin in patients case 1 and case 2

IgM / IgG / IgA / IgE / CD4 / CD8 / Naive / CD19 / NK / Memory / Activated T (CD2HLADR) / Ab
CD4 / CD19 / CD4 / CD19 / Anti-
HBs Ag / Anti-
Pneumococcus
Case 1 at 3M / 203 / 120 / 28.6 / <17 / 43.8 / 26.8 / 35.4 / 0.41 / 22.5 / 6.3 / 15.0 / 0.09 / 4.2 / － / 1.4
Case 2 at 5M / 151.0 / <134 / 26.1 / <17 / 62.1 / 14.6 / 55.3 / 0.52 / 13.6 / 8.14 / 5.11 / 0.15 / 2.8 / － / 2.7
Normal by age / 35-102 / 215-704 / 8-24 / 31-56 / 12-30 / 31-54 / 0.3-1.2 / 14-37 / 3-31 / 3-31 / 0.08-1.3 / 4-26 / ＋ / 3.8-15.9

Values outside the normal range were in bold and italics.

Supplemental Table 3. SD/THE phenotype in Asian and non-Asian patients

Asian / n=14 / Non-Asian / n=12 / Chi-square
p value
Ethnicity / Pakistani / 5 / North African / 3
Indian / 4 / French / 3
Taiwan / 2 / Italian / 2
Cambodia / 1 / Caucasian-USA / 1
Chinese / 1 / Kurdish / 1
Saudi Arabia / 1 / Mid-East / 1
English / 1
Onset Age (days; range) / 53.07±56.51(NB-6M) / 54.18 ± 44.2 (NB-5M) / 0.8324
Consanguinity / 8 / 6 / 0.7157
Lower birth weigh / 11 / 10 / 0.7587
Facial dysmorphism / 13 / 11 / 0.9096
Tri-chorrhex nodosa / 12 / 12 / 0.1730
Intractable diarrhea / 14 / 11 / 0.2707
TPN / 8 / 10 / 0.1492
Villous atrophy / 13 / 11 / 0.9096
Low IgG by age / 10 / 11 / 0.3151
Thrombocytosis / 5 / 4 / 0.8988
Liver cirrhosis / 5 / 6 / 0.4623
Hepatosplenomegaly / 5 / 5 / 0.7558
Café au lait / 7 / 4 / 0.3912
CV anomalies / 8 / 2 / 0.0344
Metal retardation / 5 / 5 / 0.7558
Delay development / 5 / 6 / 0.4623
IVIG therapy / 10 / 10 / 0.4726
Mortality / 4 / 1 / 0.1918
Mutation type
Nonsense / 19 / 5 / 0.0007
Splicing / 6 / 10 / 0.1150
Deletion / 2 / 4 / 0.2839
Insertion / 1 / 1 / 0.9114
Missense / 4 / 0.0245

Significant comparison parameters were in bold and italics.

Abbreviations: CV, cardiovascular including atrial sepatal defect (3), ventricular septal defect (1), coarctation of aorta (1), aortic regurgitation (1), dilated aortic sinus (1), and pulmonary stenosis (1) in Asian. Aortic insufficiency (1) and ventricular septal defect (1) in non-Asian; NB, neonate; TPN, total parental nutrition

Supplemental Table 4. SD/THE genotype in Asian and non-Asian patients

Asian / Non-Asian
Genomic DNA / Amino acid / Genomic DNA / Amino acid
P1 / Taiwan / Del 3464-5 AA / Del K1155HFs*2 / P1 / Mid-East / Del 287-91 / L96W, Fs*10
Del 3464-5 AA / Del K1155HFs*2 / Del 287-91 / L96W, Fs*10
P2 / Taiwan / 3507 G>T / Y1169* / P2 / Kurdish / Del 1632+1 / E545P, Fs*40
Ins 3724A / InsA1143S Fs*3 / Del 1632+1 / E545P, Fs*40
P3 / Chinese / 3507 G>T, / Y1169* / P3 / English / Del 1300-1 / L434G F3*14
3691 C>T / R1201* / 4514 T>G / L1505S
P4 / Cambodia / 154 G>T / E52* / P4 / Caucasian-USA / 2128C>T / R710*
3507 G>T / Y1169* / Ins4437-8CTA / L1446A1447insL
P5 / Saudi Arabia / 4102 G>T / Q1368* / P5 / Italian / 2921-2G>A / Del 976-1005
4102 G>T / Q1368* / 2921-2G>A / Del 976-1005
P6 / Indian / 2808 G>A / W936* / P6 / Italian / 439C>T / Q147*
2808 G>A / W936* / 2251C>T / E751*
P7 / Indian / 2808 G>A / W936* / P7 / North African / 3808C>G / P1270A
2808 G>A / W936* / 3808C>G / P1270A
P8 / Indian / 2808 G>A / W936* / P8 / North African / 3960C>G / Y1320*
2808 G>A / W936* / 3960C>G / Y1320*
P9 / Indian / 2808 G>A / W936* / P9 / North African / 2515+1G>C / C813V, Fs*56
2808 G>A / W936* / 2515+1G>C / C813V, Fs*56
P10 / Pakistani / 2779-2G>A / E974G, Fs*19 / P10 / French / Del 2578-3-7TTTTT / N860-78EDel;
2779-2G>A / E974G, Fs*19 / 4620+1G>C / W1524-64 Del & Ins61
P11 / Pakistani / 2779-2G>A / E974G, Fs*19 / P11 / French / 3015-1G>A / Del 1005-1030
2779-2G>A / E974G, Fs*19 / 4454T>G / L1485R
P12 / Pakistani / 751 G>A / F215E, Fs*14 / P12 / French / 1168 DelA / V390F,Fs*30
751 G>A / F215E, Fs*14 / 3564-2A>G / S1288R, Fs*4
P13 / Pakistani / 2808 G>A / W936*
2808 G>A / W936*
P14 / Pakistani / 2808 G>A / W936*
2808 G>A / W936*