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Article

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.

Scandinavian journal of immunology - 1 May 2023

Tajik Shaghayegh, Badalzadeh Mohsen, Houshmand Massoud, Alizadeh Zahra, Moradi Leila, Hamidieh Amir Ali, Shafiei Alireza, Heris Javad Ahmadiani, Bahram Seiamak, Molitor Anne, Carapito Raphael, Moin Mostafa, Fazlollahi Mohammad Reza, Pourpak Zahra

Abstract excerpt

Griscelli syndrome type 2 (GS2) is an autosomal recessive immunodeficiency characterized by hair hypopigmentation, recurrent fever, hepatosplenomegaly and pancytopenia. This study aims to find new genetic changes and clinical features in 18 children with GS2 caused by the RAB27A gene defect. In all, 18 Iranian children with GS2 who presented with silver grey hair and frequent pyogenic infection were included in...

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PMID: 37368332
DOI: 10.1111/sji.13264

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