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Table 2 Laboratory Investigations

From: Hyper IgE recurrent infection syndrome in South Asia: is there a different outcome?

 

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

Eosinophil count (normal < 450/µl)

250

1000

500

8650

0

Serum IgE level IU/ml

> 2000 (normal 2–629)

> 2000 (normal 2–307)

> 2000 (normal 2–696)

> 2000 (normal 2–403)

> 2000 (normal 2–696)

Serum immunoglobulins (mg/dl)

 IgG (range)

>1120 (726–1085)

1120 (569–1597)

1098 (559–1492)

1212 (559–1492)

985 (779–1456)

 IgA (range)

40 (70–229)

57 (55–152)

153 (54–221)

161 (54–221)

44 (2–208)

 IgM (range)

> 94.8 (35–72)

> 94.8 (22–100)

264 (27–118)

42 (27–118)

>94.8 (35–132)

Isohemagglutinin titre (normal > 1: 10 dilution)

Normal

Normal

Normal

Normal

Normal

Typhoid Vi IgG EU/Ml (Sero-positive ≥ 150 EU/ml)

> 600

Not done

503

Not done

312

Lymphocyte subsets (/µl)

 CD 3 (normal range)

   

12,920 (2300–6500)

 

 CD 4 (normal range)

42% = 1290 (400–2100)

32% = 1760 (300–2000)

34% = 1478 (9300–2000)

4718 (1500–5000)

36% = 971 (400–2100)

 CD 8 (normal range)

35% = 1075 (200–1200)

36% = 1980 (300–1800)

31% = 1341 (399–1200)

7461 (500–1600)

27% = 749 (200–1200)

 CD 19 (normal range)

13% 399 (200–600)

20% = 1100 (200–1600)

23% = 995 (200–1600)

4125 (600–3000)

13% = 361 (200–600)

Mutation analysis of STAT3 gene

A heterozygous mutation in 1145 G to A in exon 13 leading to an amino acid change R382Q in the DNA binding domain

A heterozygous mutation in 1145 G to A in exon 13 leading to an amino acid change R382Q in the DNA binding domain

A heterozygous mutation in 1909 G to A in exon 21 leading to an amino acid change V637M in the SH2 domain

A heterozygous mutation in 1144 C to T in exon 13 leading to an amino acid change R382W in the DNA binding domain

A heterozygous mutation in 1909 G to A in exon 21 leading to an amino acid change V637M in the SH2 domain