Griscelli Syndrome Type 2

**Semantic type:** Disease or Syndrome

**Definition:** A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.

**Synonyms:** - GS2 - PAID Syndrome - Partial Albinism and Immunodeficiency Syndrome