Table 2 Summary of clinical details and genetic analysis of CGD patients
From: Preliminary study on chronic granulomatous disease in Sri Lanka
Patient | CGD subtype | Slide NBT result (%) | Age at onset | Age at diagnosis | Gene affected | Exon/intron | Nucleotide change | Amino acid change [9] |
|---|---|---|---|---|---|---|---|---|
P-01 | X-linked | < 5 | Referred at birth | 1 month | CYBB | Exon 10 | Deletion c.1314delG | p.Ile439SerfsX63 |
P-02 | X-linked | < 5 | 1.5 months | 6.5 months | CYBB | Exon 11 | Deletion c.1415delG | p.Gly472AlafsX30 |
P-03 | X-linked | < 5 | 1 month | 7 months | CYBB | Exon 10 | Deletion c.1314delG | p.Ile439SerfsX63 |
P-04 | X-linked | < 5 | 16 days | 2 months | CYBB | Exon 3 | Nonsense c.217C > T | p.Arg73X |
P-05 | AR | < 5 | 6 months | 2.5 years | NCF1 | Exon 2 | Deletion c.75_76delGT | p.Tyr26Hisfs |
P-06 | AR | < 5 | 1.6 years | 10 years | NCF1 | Exon 2 | Deletion c.75_76delGT | p.Tyr26Hisfs |
P-07 | X-linked | 1–2 | 1 month | 2.5 months | CYBB | Intron 2 | Splice site c.141 + 6T > A | del exon 2 p.Leu16_Gly47del |
P-13 | X-linked | < 5 | 4 months | 7 months | CYBB | Exon 3 | Splice site c.252G > A | del. exon 3 p.Ser48_Ala84del |