Griscelli Syndrome Overview
Learn About Griscelli Syndrome
Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms.
The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene.
Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 appears to be the most common of the three known types.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Jasmin Deschner-Kuemmerle practices in Tuebingen, Germany. Ms. Deschner-Kuemmerle is rated as an Elite expert by MediFind in the treatment of Griscelli Syndrome. Her top areas of expertise are Familial Cold Autoinflammatory Syndrome, Neonatal Onset Multisystem Inflammatory Disease, Muckle-Wells Syndrome, and Mevalonate Kinase Deficiency.
Isabelle Paut-Kone practices in Paris, France. Ms. Paut-Kone is rated as an Elite expert by MediFind in the treatment of Griscelli Syndrome. Her top areas of expertise are Mevalonate Kinase Deficiency, Muckle-Wells Syndrome, Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Autoinflammatory Syndrome, and Vitrectomy.
Donato Rigante practices in Rome, Italy. Mr. Rigante is rated as an Elite expert by MediFind in the treatment of Griscelli Syndrome. His top areas of expertise are PFAPA, Aphthous Stomatitis, Canker Sore, and Mevalonate Kinase Deficiency.
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Published Date: September 01, 2013
Published By: National Institutes of Health