Monogenic mutations associated with IgA deficiency.
For twenty years, two paradigms have been considered as the main genetic contributors to immunoglobulin A deficiency, including cytogenetic defects involving large chromosomal aberrations and an association with the human major histocompatibility complex (MHC) locus. However, an overview of recent studies suggests a role for several monogenic disorders in the development of this disease. Areas covered: This review examines the concept of monogenic disorders for patients with IgA deficiency in order to identify the underlying pathogenic mechanism(s). Expert commentary: A clinical/immunologic workup followed by targeted gene mutation analysis has been proposed for an approach to IgA deficient patients.