TY - JOUR
T1 - Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis
T2 - Sisters with the Same Mutation but Different Presentations
AU - Russ, Abigail
AU - Mack, Joana
AU - Green-Murphy, Audrey
AU - Occidental, Michael
AU - Mian, Amir
N1 - Publisher Copyright:
© 2019 Lippincott Williams and Wilkins. All rights reserved.
PY - 2019/8/1
Y1 - 2019/8/1
N2 - 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.
AB - 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.
KW - Griscelli syndrome type 2
KW - RAB27A mutation
KW - hemophagocytic lymphohistiocytosis
KW - oculocutaneous albinism
KW - pancytopenia
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U2 - 10.1097/MPH.0000000000001522
DO - 10.1097/MPH.0000000000001522
M3 - Article
C2 - 31233462
AN - SCOPUS:85070443657
SN - 1077-4114
VL - 41
SP - 473
EP - 477
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
IS - 6
ER -