Tehran University of Medical Sciences Acta Medica Iranica 0044-6025 58 1 2020 06 16 38 42 EN Ahmad Bahrami Department of Allergy & Immunology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. AND Ali Asghar Children’s Hospital, Iran University of Medical Sciences, Tehran, Iran. Alireza Nateghian Ali Asghar Children’s Hospital, Iran University of Medical Sciences, Tehran, Iran . AND Infectious Disease Research Center, Iran University of Medical Sciences, Tehran, Iran. Shima Salehi Ali Asghar Children’s Hospital, Iran University of Medical Sciences, Tehran, Iran. AND Department of Rheumatology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. Gholamreza Bahoush Department of Hematology, Ali-Asghar Children’s Hospital, Iran University of Medical Sciences, Tehran, Iran. Saeed Talebi Department of Medical Genetics & Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. Saeide Ghasemi Department of Allergy & Immunology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. AND Ali Asghar Children’s Hospital, Iran University of Medical Sciences, Tehran, Iran. Sepideh Razi Student Research Committee, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Nima Rezaei Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. AND Research Center for Immunodeficiencies, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. 2019 04 06 2020 04 24 Griscelli syndrome (GS) is a rare autosomal recessive disease that affects hair, skin, and immune system. Here, we describe an 8.5-month-old infant with multiple admissions due to fever, petechial purpura, and several recurrent vomiting episodes with a presumptive diagnosis of recurrent sepsis. He was born from parents with consanguineous marriage. The initial examinations revealed huge splenomegaly and hepatomegaly without any source of infection. Laboratory tests revealed a hemophagocytic lymphohistiocytosis (HLH) like a picture with a high blood level of ferritin in all episodes, but the bone marrow test result was normal. Although he had normal hair and skin pigmentation on physical examination, the accumulation of melanosomes was found in his hair shafts on microscopic investigations. Eventually, a genetic test revealed a mutation in the RAB27A gene, which confirmed GS-II diagnosis. Our case is the first case of GS-II from Iran without any apparent clinical features of GS, such as hypopigmented skin and silvery-gray hair. Therefore, a genetic test, together with the microscopic examination of hair and skin, is necessary for the diagnosis and confirmation of GS-II. Since GS-II is an autosomal recessive disorder and consanguineous marriages are popular in Iran, premarital genetic counseling is recommended for this region. https://acta.tums.ac.ir/index.php/acta/article/view/7825 https://acta.tums.ac.ir/index.php/acta/article/download/7825/5365