Griscelli Syndrome Type 2: A Case Report on Its Diagnosis and Management

Abstract

Griscelli syndrome (GS) is an autosomal recessive disorder which is very rare and is characterized by dilution of pigments and variable immunodeficiency. Researchers have identified three types of this disorder which are distinguished by their genetic cause and pattern of signs and symptoms: Type 1, Type 2 and Type 3, caused by the mutation of MYO5A, RAB27A and MLPH genes respectively. Subtype 2 being the most common, is characterized by severe immunological impairment and commonly develops hemophagocytic lymphohistiocytosis (HLH) and recurrent infections and is inherited in an autosomal recessive pattern. The present case is about a 5-month-old Indian girl child who was diagnosed with GS type 2.

Keywords: Griscelli syndrome, immunodeficiency, partial albinism, hemophagocytic lymphohistiocytosis, autosomal recessive disease

Cite this Article

Ansu Ann Mathew, Iswar Hazarika. Griscelli Syndrome Type 2: A Case Report on Its Diagnosis and Management. Research & Reviews: A Journal of Immunology. 2018; 8(2): 5–7p.