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Griscelli syndrome
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Griscelli syndrome

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Contributors: Benjamin L. Mazer MD, MBA
Other Resources UpToDate PubMed


Griscelli syndrome is a rare, autosomal recessive syndrome that presents with varying degrees of albinism, immune deficiency, and neurologic abnormalities. Silver-gray hair is the most distinctive physical feature. Severe infections, hemophagocytic syndrome, and developmental delay begin to develop in infancy. It is most common in people of Middle Eastern and Mediterranean descent. There are 3 subtypes of Griscelli syndrome that differ in the underlying genetic mutation and extent of neurologic and immune dysfunction. The immunodeficiency associated with Griscelli syndrome can be treated with bone marrow transplantation. Without transplantation, Griscelli syndrome is predominantly fatal.

For more information on type 1, see OMIM.

For more information on type 2, see OMIM.

For more information on type 3, see OMIM.


E70.8 – Other disorders of aromatic amino-acid metabolism

37548006 – Hypopigmentation-immunodeficiency disease

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Last Updated: 03/29/2017
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Griscelli syndrome
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Griscelli syndrome (Type 2) : Hepatomegaly, Hypotonia, Silver hair, Splenomegaly, WBC decreased
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