HLA in a Selective Aldosterone Biosynthetic Defect due to Type 2 Corticosterone Methyl‐Oxidase Deficiency

Abstract

HLA phenotypes were studied in nine Jewish families, originating from Iran, with 18 individuals affected with a selective aldosterone biosynthetic defect and 12 healthy siblings. This disorder is inherited through an autosomal recessive gene and parents were consanguineously related in eight out of nine sibships. Family analysis showed that 18 affected individuals carried 20 different haplotypes and only two patients were homozygous for a haplotype. Yet a peak lod score of 1.128 was obtained for the recombinant fraction of 0.05 and thus linkage to HLA cannot be ruled out.

Immunogenetics in the Holy Land

“…It was common to spot Chaim's students outside the delivery room waiting for the multipara sera and placenta, or the surgery room for the lymph node or biopsy sample. Others were scanning the nation to collect blood samples from consanguineous families to prepare homozygous typing cells, or were building data sets for elegant immunogenetic descriptions of different Israeli communities and disease association studies in type 1 diabetes, congenital adrenal hyperplasia, multiple sclerosis, and pemphigus vulgaris, among many others (1–5).…”