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Griscelli syndrome
#00064396
Author: Najmaldin Saki Ph.D; Bita Bandar M.Sc
Category: Primary Immunodeficiency (PID) > Other immunodeficiencies > Immunodeficiency with Albinism > Griscelli syndrome
Published Date: 03/24/2023
Category: Primary Immunodeficiency (PID) > Other immunodeficiencies > Immunodeficiency with Albinism > Griscelli syndrome
Published Date: 03/24/2023
Griscelli syndrome is a rare autosomal recessive condition characterized by albinism(hypopigmented skin and light gray hair) and is caused by mutations in one of these genes: RAB27A, MYO5A or MLPH. All 3 types of this disorder has hypopigmentation issue. Irregular clumping of melanin pigment and its uneven distribution can be seen in a hair of a patient with Griscelli syndrome.
