Griscelli syndrome is an immunodeficiency first described in 1978 by MD Claude Griscelli who worked at "Hopital Necker-Enfants Malades" in Paris, France. The two genes, MYA5 and RAB27A, are known to be the cause of this disease. The gene MYA5 has severe neurological problems as a typical sign, and the gene RAB27A has an accelerated phase that can be lethal within a short period of time. A bone marrow transplantation ( BMT) is the only way to save the life.
The typical appearance of someone afflicted with this syndrome are silvery- blond hair, and if it is examined under a microscope you can easily see the typical pigmentation of the hair shaft.
A few other diseases like
http://www.orpha.net/data/patho/GB/uk-griscelli.pdf
Hemophagocytic Lympho-Histiocytosis (HLH) syndrome, the familial lymphohistiocytosis (FHL), the Chediak-Higashi syndrome (CHS), and the X-linked lymphoproliferative syndrome have the same bacic characteristic , but are different in many other ways.