A Novel Homozygous RAB27A Mutation is Associated with Griscelli Syndrom Type II and Less Severe Presentations

• DOI: 10.18502/igj.v7i2.17854
• Publication Date: 2025-02-16T07:58:05Z
• Authors: Mostafa Kamali; Sepideh Shahkarami; Elham Rayzan; Iraj Mohammazadeh; Meino Rohlfs; Christoph Klein; Nima Rezaei

Griscelli syndrome type II is a primary immunodeficiency disorder caused by RAB27A gene mutation. It inherited in an autosomal recessive manner and characterized oculocutaneous hypopigmentation various cellular immune system deficiencies. Herein, we report 5-year-old girl with silvery-gray hair, eyebrows, eyelashes who was referred to our deficiency clinic because of recurrent oral thrush. Further investigations were performed uncover the probable underlying genetic disorder. Whole-exome sequencing revealed novel mutation (c.137T>G) confirmed diagnosis 2 Due poor prognosis nature this also its need for differential some other conditions hypopigmentation, prompt diagnosis, analysis, proper treatment are necessary avoiding serious complications.