Abstract

A small number of inherited diseases show a combination of immunological and pigmentation defects. Chediak-Higashi, Griscellis and Hermansky-Pudlak syndromes are all autosomal recessive diseases with these characteristics. Recent advances in both the identification of the genes giving rise to these diseases and the cell biology of immune cells and melanocytes have begun to reveal the molecular links between immunodeficiencies and albinism. These studies identify key proteins, such as Rab27a, which are critical for secretion of specialised granules found in melanocytes and immune cells. The granules of these cells are modified lysosomes termed “secretory lysosomes”. These studies reveal that secretory lysosomes use specialised mechanisms of secretion, not found in other cell types, which explains the selective defects in these diseases.

Keywords: Albinism, melanocytes, immunodeficiencies