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 assosciated 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.
^Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M (1978). "A syndrome associating partial albinism and immunodeficiency". Am. J. Med. 65 (4): 691–702. doi:10.1016/0002-9343(78)90858-6. PMID 707528.
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II Griscellisyndrome, while a decrease in Rab27 prenylation is thought to be involved in choroideremia. The symptoms of type II Griscellisyndrome have...
expression may be regulated by MITF. A mutation in this gene results in Griscellisyndrome type 3, which is characterized by a silver-gray hair color and abnormal...
mediated signal transduction. Mutations in this gene are associated with Griscellisyndrome type 2 and hemophagocytic lymphohistiocytosis. Alternative splicing...
ataxia–telangiectasia, Chédiak–Higashi syndrome, DiGeorge syndrome, Griscellisyndrome and Marinesco–Sjögren syndrome. There is no known curative treatment...
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