Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 3 2 2020 08 01 51 55 Shiva Shadani Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran Molood Safarirad Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran Reyhaneh Ramezanzadeh Department of Pathology, North Khorasan University of Medical Sciences, Bojnurd, Iran Koroush Yousefi Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran Ahmad Vosughi Motlagh Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran 2020 04 15 Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism with immunodeficiency, which usually causes death by early childhood. This syndrome is a primary immune defects that presents with a dilution of pigmentations of the skin and hair, recurrent pulmonary and skin infections, neurologic disorders, hypogammaglobulinemia, and variable cellular immunodeficiency. In different phenotypes of the syndrome, three mutations have been mentioned. In most of them, GS leads to death in the first decade of life. Herein, we report a one-year-old male child with an upper respiratory infection and retropharyngeal abscess as first clinical manifestation. https://igj.tums.ac.ir/index.php/igj/article/view/51 https://igj.tums.ac.ir/index.php/igj/article/download/51/41