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

Mostafa  Kamali; Sepideh  Shahkarami; Elham  Rayzan; Iraj  Mohammazadeh; Meino  Rohlfs; Christoph  Klein; Nima  Rezaei

doi:10.18502/igj.v7i2.17854

Mostafa Kamali Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran
Sepideh Shahkarami Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München (LMU), Munich, Germany
Elham Rayzan Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Iraj Mohammazadeh Noncommunicable Pediatric Diseases Research Center, Amirkola Hospital, Babol University of Medical Sciences, Babol, Iran
Meino Rohlfs Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München (LMU), Munich, Germany
Christoph Klein Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München (LMU), Munich, German
Nima Rezaei Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

DOI: https://doi.org/10.18502/igj.v7i2.17854

Keywords: Griscelli Syndrome Type II; Novel Mutation; Primary Immunodeficiency Disorder; RAB27A Gene

Abstract

Griscelli syndrome type II is a primary immunodeficiency disorder caused by a RAB27A gene mutation. It is inherited in an autosomal recessive manner and is characterized by oculocutaneous hypopigmentation and various cellular immune system deficiencies.

Herein, we report a 5-year-old girl with silvery-gray hair, eyebrows, and eyelashes who was referred to our primary immune deficiency clinic because of recurrent oral thrush. Further investigations were performed to uncover the probable underlying genetic disorder. Whole-exome sequencing revealed a novel mutation in the RAB27A gene (c.137T>G) and confirmed the diagnosis of Griscelli syndrome type 2

Due to the poor prognosis nature of this disorder and also its need for differential diagnosis with some other conditions with hypopigmentation, prompt diagnosis, genetic analysis, and proper treatment are necessary for avoiding serious complications.