The etiologic agents in the AHLH patients are shown in Table 1.
Etiologic agents and perforin A91V transition in the AHLH patients Underlying Disease Number of A91V mutation Patients positive EBV infection 6 2 Leukemia 5 Autoimmune disease 4 Combined E.
3%) of the AHLH patients were heterozygous for the A91V transition (Table 2).
Distribution of perforin gene A91V transition, and TNF-cx promoter-1031 T>C polymorphism genotypes and alleles Group Perforin TNF - A91V [alpha] - 1031 T>C Genotype Allele Total A91V+ Total CC TC TT C Studied n (%) Studied n (%) n (%) n (%) n (%) (n) (n) AHLH 44 5 40 1 16 23 18 (11.
Among the 40 AHLH patients examined for the polymorphism, 1 (4%) had the CC genotype and 16 (40%) had the TC genotype.
3%) AHLH patients with infection had A91V in the heterozygote state, suggesting that the transition may be a predisposing factor for infection-associated AHLH; the difference between the 2 groups was not statistically significant.
TNF-[alpha] promoter-1031 T>C polymorphism, which is reported to have a significant affect on transcription, was not observed to increase the risk of AHLH in the present study.