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 |