Griscelli syndrome type 2: a tragic tale of two siblings
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Date
2025-07
Journal Title
Journal ISSN
Volume Title
Publisher
Medip Academy
Abstract
Griscelli syndrome (GS) is a rare autosomal recessive disorder classified as an inborn error of immunity. Among its three variants, GS type 2, caused by mutations in the RAB27A gene, is marked by partial albinism and recurrent episodes of hemophagocytic lymphohistiocytosis (HLH). This case report chronicles the poignant journey of two siblings tragically lost to this condition. GS type 2 carries a high mortality rate, primarily due to HLH complications. Currently, hematopoietic stem cell transplantation (HSCT) remains the sole curative treatment for this devastating syndrome.
Description
Keywords
Inborn error of immunity, RAB27A mutation, Hemophagocytic lymphohistiocytosis, Albinism
Citation
Muppalla M, Parimi VP, Tejaswini RN, Vaishnavi A, Ranganath P, Lanka NK.. Griscelli syndrome type 2: a tragic tale of two siblings. International Journal of Contemporary Pediatrics. 2025 Jul; 12(7): 1232-1235