Griscelli Syndrome: A Case Report
نویسندگان
چکیده
OBJECTIVE Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.
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Paediatric Dermatology Column: Case Report Silvery hair syndromes: report of familial cases of Griscelli syndrome in three siblings
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