Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene

被引：0

作者：

A. Peijnenburg

R. Van den Berg

M.J.C.A. Van Eggermond

Ö. Sanal

J. M. J. J. Vossen

A. -M. Lennon

C. Alcaïde-Loridan

P.J. Van den Elsen

机构：

[1] Department of Immunohematology and Blood Bank,

[2] Leiden University Medical Center,undefined

[3] Building 1,undefined

[4] E3-Q,undefined

[5] P.O. Box 9600,undefined

[6] 2300 RC Leiden,undefined

[7] The Netherlands e-mail: pvdelsen@euronet.nl Tel.:+31-71-5263831 Fax: +31-71-5216751,undefined

[8] Immunology Unit,undefined

[9] Hacettepe University Children's Hospital,undefined

[10] Ankara,undefined

[11] Turkey,undefined

[12] Department of Pediatrics,undefined

[13] Leiden University Medical Center,undefined

[14] P.O. Box 9600,undefined

[15] 2300 RC Leiden,undefined

[16] The Netherlands,undefined

[17] Unité d'Immunogénétique Humaine,undefined

[18] Institut Pasteur,undefined

[19] Paris,undefined

[20] France,undefined

来源：

Immunogenetics | 2000年 / 51卷

关键词：

Key words Bare lymphocyte syndrome; MHC class II deficiency; MHC class II transactivator (CIITA); Immunodeficiency; Gene regulation;

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学科分类号：

摘要：

MHC class II deficiency patients are mutated for transcription factors that regulate the expression of major histocompatibility complex (MHC) class II genes. Four complementation groups (A–D) are defined and the gene defective in group A has been shown to encode the MHC class II transactivator (CIITA). Here, we report the molecular characterization of a new MHC class II deficiency patient, ATU. Cell fusion experiments indicated that ATU belongs to complementation group A. Subsequent mutation analysis revealed that the CIITA mRNA lacked 84 nucleotides. This deletion was the result of the absence of a splice donor site in the CIITA gene of ATU. As a result of this novel homozygous genomic deletion, ATU CIITA failed to transactivate MHC class II genes. Furthermore, this truncated CIITA of ATU did not display a dominant negative effect on CIITA-mediated transactivation of various isotypic MHC class II promoters.

引用

页码：42 / 49

页数：7