| Griscelli syndrome: rare neonatal syndrome of recurrent hemophagocytosis. | |
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MedLine Citation:
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PMID: 11878584 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Griscelli syndrome (GS) is a rare inherited disease characterized by immunodeficiency and partial albinism. The microscopic findings of the skin and hair are highly suggestive of the disease. The GS locus colocalizes on chromosome 15q21 with the myosin-Va gene (MYO5a), and mutations have been identified in few patients. We describe a 2-month-old Hispanic girl with severe pancytopenia secondary to hemophagocytosis. Even though a mutation at the Griscelli locus had not been identified, her clinical features and outcome were typical of GS. The purpose of this article is to alert physicians to the association between GS and hemophagocytosis. We suggest that GS should be considered in infants with hemophagocytosis because the features of partial albinism can be subtle. The relevant literature is summarized. |
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Authors:
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M Kumar; K Sackey; F Schmalstieg; Z Trizna; M T Elghetany; B P Alter |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Journal of pediatric hematology/oncology Volume: 23 ISSN: 1077-4114 ISO Abbreviation: J. Pediatr. Hematol. Oncol. Publication Date: 2001 Oct |
Date Detail:
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Created Date: 2002-03-06 Completed Date: 2002-03-21 Revised Date: 2011-10-06 |
Medline Journal Info:
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Nlm Unique ID: 9505928 Medline TA: J Pediatr Hematol Oncol Country: United States |
Other Details:
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Languages: eng Pagination: 464-8 Citation Subset: IM |
Affiliation:
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Division of Pediatric Hematology/Oncology, University of Texas Medical Branch, Galveston, USA. mkumar@iupui.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Albinism
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complications*,
diagnosis Autophagy Child Child, Preschool Diagnosis, Differential Female Histiocytosis, Non-Langerhans-Cell / complications*, diagnosis Humans Immunologic Deficiency Syndromes / complications*, diagnosis Infant Infant, Newborn Male Pancytopenia / complications*, diagnosis Recurrence Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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