GENETIC COUNSELLING IN PRIMARY IMMUNODEFICIENCY DISORDERS

The primary immune deficiency disorders are a complex group of disorders. This complexity is also reflected in the genetic heterogeneity. There are a large number of genes implicated in this group and mutations are inherited in an autosomal recessive, dominant and X-linked manner. In addition chromosomal mechanisms, complex inheritance patterns and epigenetic factors have also been shown to be involved in the development of these disorders. Owing to the genetic complexity and heterogeneity, genetic counselling is indicated for the patients and their families. Genetic counselling assists the families in understanding the genetic contributions to disease occurrence and recurrence risks. It plays an important role in facilitating decision making and arranging genetic testing. Genetic counselling plays an important role in the comprehensive management of these patients and geneticists should be an integral part of the healthcare team.