Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters with the Same Mutation but Different Presentations

Abigail Russ, Joana Mack, Audrey Green-Murphy, Michael Occidental, Amir Mian

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Griscelli syndrome type 2 (GS2) is an autosomal recessive condition associated with the development of hemophagocytic lymphohistiocytosis. GS2 is caused by a gene mutation involving RAB27A, which affects a melanosome anchoring complex in melanocytes and releases cytolytic granules from T cells and natural killer cells. GS2 is known to have immunologic compromise and oculocutaneous albinism. We present the case of 2 sisters who had vastly different phenotypic presentations despite having the same genetic frameshift mutation in the RAB27A gene. Patient 1 presented with seizures and neurological compromise, whereas patient 2 presented with pancytopenia and diarrhea. Both patients developed hemophagocytic lymphohistiocytosis.

Original languageEnglish (US)
Pages (from-to)473-477
Number of pages5
JournalJournal of Pediatric Hematology/Oncology
Volume41
Issue number6
DOIs
StatePublished - Aug 1 2019
Externally publishedYes

Keywords

  • Griscelli syndrome type 2
  • hemophagocytic lymphohistiocytosis
  • oculocutaneous albinism
  • pancytopenia
  • RAB27A mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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