Griscelli syndrome

Griscelli syndrome
Other names	Partial albinism-immunodeficiency syndrome, Griscelli-Pruniéras syndrome, Chédiak-Higashi-like syndrome
Griscelli syndrome has an autosomal recessive pattern of inheritance.
Specialty	Pediatrics

Griscelli syndrome is a rare autosomal recessive^[1] disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli syndrome is associated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, type 3 is seen as those only affected by hypopigmentation of the skin and hair. This type is not associated with immune deficiencies or neurological abnormalities.