Condition in which genetic disease is present if both copies of a particular gene, present on chromosomes other than those used to determine a person's sex, are abnormal.
A particular type of genetic inheritance. In a recessive inheritance pathway, like in Kostmann syndrome, the child will become a Kostmann patient only if both parents pass the affected gene on to their child. The addition 'autosomal' refers to the fact that the inheritance is independent of the child's sex.
A pattern of inheritance in which mutations occur in both alleles of an autosomal gene. Thus, both parents must possess mutated copies of the gene for their offspring to inherit an autosomal recessive condition. B BASE: One of the four primary subunits of DNA.