Cerebral Involvement of Hemophagocytic Lymphohistiocytosis in Griscelli Syndrome

Type II Griscelli Syndrome (GS) is caused by a mutation in the RAB27A gene and usually manifests with silvery-gray hair, immune deficiency and the development of hemophagocytic lymphohistiocytosis (HLH). A hematopoietic stem cell transplantation is the curative treatment for HLH and reduced-intensit...

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Bibliographic Details
Published in:The journal of pediatric research 2019-09, Vol.6 (3), p.252-255
Main Authors: Toret, Ersin, Ay, Yilmaz, Aksoylar, Serap, Karapinar, Tuba Hilkay, Oymak, Yesim
Format: Article
Language:English
Subjects:
Albinism
Genes
Genetic aspects
Griscelli Syndrome
Hematopoietic stem cell transplantation
Hematopoietic stem cells
hemophagocytic lymphohistiocytosis
Immunodeficiency
Infection
Rash
Recurrence (Disease)
Skin
Skin diseases
Splenomegaly
Stem cell transplantation
Stem cells
Surgery
Tıp
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Summary:Type II Griscelli Syndrome (GS) is caused by a mutation in the RAB27A gene and usually manifests with silvery-gray hair, immune deficiency and the development of hemophagocytic lymphohistiocytosis (HLH). A hematopoietic stem cell transplantation is the curative treatment for HLH and reduced-intensity conditioning prevents the morbidity/mortality in the transplantation related to myeloablative conditioning. We report on a 21-month old boy with cerebral involvement of HLH related to GS.
ISSN:2147-9445
2147-9445
2587-2478
DOI:10.4274/jpr.galenos.2018.33254