NDLI: Cytotoxic T-lymphocyte-associated antigen 4 gene polymorphisms in Japanese children with infection-associated hemophagocytic lymphohistiocytosis.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Yoshiyama, Megumi Kounami, Shinji Nakayama, Keiko Okutani, Takahiro Aoyagi, Noriyuki Yoshikawa, Norishige
Spatial Coverage	Japan
Description	Country affiliation: Japan Author Affiliation: Yoshiyama M ( Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.)
Abstract	OBJECTIVE: This study examined whether genetic polymorphisms in cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4), a negative regulator of T cells, are associated with infection-associated hemophagocytic lymphohistiocytosis (IHLH) in Japanese children. METHODS: We investigated the alleles of four polymorphisms in the CTLA-4 gene [-318CT, +49AG, CT60 and a dinucleotide repeat length polymorphism (AT)n] in 43 Japanese children with IHLH and 100 healthy Japanese controls. The hyper-polymorphic (AT)n alleles were divided into two types; the shortest allele (designated as AT(7)) and the longer alleles (designated as AT(>)(7)). RESULTS: A significant difference in the distribution of the (AT)n genotype was found between patients and controls (p = 0.028). Also, the frequency of the AT(>)(7) allele was significantly higher in the patients with IHLH than in the controls (p = 0.007). No significant linkage disequilibrium was found between each polymorphism. With regard to laboratory data, patients homozygous for the CTLA-4 AT(>)(7) allele showed significantly higher serum levels of lactate dehydrogenase and soluble interleukin-2 receptor than patients with the other alleles. CONCLUSION: These results suggest that CTLA-4 polymorphisms might play a role in the development of IHLH in Japanese children.
File Format	HTM / HTML
ISSN	00015792
Issue Number	3
Volume Number	123
e-ISSN	14219662
Journal	Acta Haematologica
Language	English
Publisher	Karger
Publisher Date	2010-01-01
Publisher Place	Switzerland
Access Restriction	Subscribed
Subject Keyword	Discipline Hematology Antigens, Cd Genetics Genetic Predisposition To Disease Infection Complications Lymphohistiocytosis, Hemophagocytic Polymorphism, Genetic Adolescent Alleles Ctla-4 Antigen Child Child, Preschool Cytotoxicity Tests, Immunologic Female Genotype Humans Infant Microbiology Virology Japan Lactate Dehydrogenases Blood Male Receptors, Interleukin-2 Statistics As Topic Journal Article
Content Type	Text
Resource Type	Article
Subject	Hematology

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