Abstract
Liver disease of variable severity occurs in only 20% of children with PiZ phenotype. To investigate whether such variability is due to immunogenetic factors we have determined HLA phenotypes of 43 unrelated PiZ children with CLD. 36 classl [A & B] were determined in all patients and 63 controls, and 9 class II(DR) antigens were determined in 33 patients and 47 controls. Haplotypes were obtained by studying family members. Significant differences between patients and controls were limited to B5 which was absent in patients but present in 8 controls [12.6%, p =0.0475] and DR3 which was found more frequently in patients [19 (57.6%) compared with 14 controls (29.8%), X2=5.084, p<0.025, relative risk = 3.20]. Although DR3 is in strong allelic association with Al & B8 the frequency of these antigens in patients [Al: 1] of 43(25.6%) and B8: 11 of 43(25.6%) were similar to that in the controls. The frequency of haplotypes A1-B8 [5 of 64, 7.8%] and B8-DR3 [4 of 36, 11.1%] in patients were similar to the findings in 8th International HLA Workshop. It is possible that B5 confers protection against liver disease in AATd whereas DR3 increases susceptibility. Thus, an immunoregulatory gene may influence the clinical outcome of AATd. Lack of increase in Al or B8 despite an increase in DR3 suggests a genetic base different to that usually associated with autoimmunity.
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Mieli-Vergani, G., Doherty, D., Donaldson, P. et al. 12. HLA STATUS IN CHILDREN WITH ALPHA-1 ANTITRYPSIN DEFICIENCY(AATd)(PiZ) & CHRONIC LIVER DISEASE (CLD). Pediatr Res 22, 98 (1987). https://doi.org/10.1203/00006450-198707000-00033
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DOI: https://doi.org/10.1203/00006450-198707000-00033