TY - JOUR AU - Alqasimi, Mai PY - 2021/05/20 Y2 - 2024/03/29 TI - Unusual Presentation of Griscelli Syndrome type II, Case Report. JF - Jour Med Resh and Health Sci JA - jmrhs VL - 4 IS - 5 SE - ORIGINAL ARTICLES DO - 10.15520/jmrhs.v4i5.344 UR - https://jmrhs.info/index.php/jmrhs/article/view/344 SP - 1253-1256 AB - <p><strong>Abstract:</strong></p><p>Griscelli syndrome (GS) is a rare autosomal recessive disorder&nbsp;caused by mutation in the&nbsp;MYO5A&nbsp;(GS1, Elejalde),&nbsp;RAB27A&nbsp;(GS2) or&nbsp;MLPH&nbsp;(GS3) genes. All three subtypes of this disease present by pigmentary dilution of the hair and skin with silvery-grey hair. Whereas this is the only feature in GS3 phenotype, GS1 patients also have primary neurological impairment and GS2 patients show severe immunological deficiencies leading to recurrent infections and hemophagocytic syndrome. We report here the case of GS2 in a10-year-old boy, with immunodeficiency and recurrent infections with hemophagositic lymphohistocytosis but without pigmentary changes.</p> ER -