griscelli syndrome type 2 griscelli syndrome type 2 griscelli syndrome type 2 (also known as "partial albinism with immunodeficiency") is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, neutropenia, and thrombocytopenia.: 866 griscelli syndrome type 2other nameshypopigmentation-immunodeficiency with or without neurologic impairment syndromethis condition is inherited in an autosomal recessive manner presentation all types of griscelli syndrome have distinctive skin and hair coloring. type 1 is associated with neurological abnormalities. these include delayed development, intellectual disability, seizures, hypotonia and eye abnormalities. type 2 - unlike type 1 - is not associated with primary neurological disease but is associated with an uncontrolled t lymphocyte expansion and macrophage activation syndrome. it is often associated with the hemophagocytic syndrome. this latter condition may be fatal in the absence of bone marrow transplantation. persons with type 3 have the typical light skin and hair coloring but are otherwise normal. genetics there are three types of griscelli syndrome. type 1 is associated with mutations in the myo5a gene type 2 is associated with mutations in rab27a gene. both these genes are located on the long arm of chromosome 15 (15q21). type 3 is associated with mutations in the mlph gene. all types are inherited in an autosomal recessive fashion. diagnosis differential diagnosis this includes chediak-higashi syndrome and elejalde syndrome (neuroectodermal melanolysosomal disease). treatment history this syndrome was first described in 1978. in 2000 types 1 and 2 were distinguished.