Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.

The article discusses a study on pallidin mutation linked with Hermansky-Pudlak-like primary immunodeficiency syndrome. Partial albinism and primary immunodeficiency results in autosomal recessive disorders including Hermansky-Pudlak syndrome type 2, Online Mendelian Inheritance and Chediak-Higashi syndrome. It also informs that mutation is associated with defective NK-cell degranulation and cytolysis.