Gene Expression Signatures in Primary Immunodeficiencies: The Experience from Human Disease and Mouse Models

K.   Emelie   M.Blomberg; C.   I.   Edvard Smith; Jessica   M.   Lindvall

Abstract

Extensive research on molecular genetics in recent decades has provided a wealth of information regarding the underlying mechanisms of primary immunodeficiency diseases. The microarray technology has made its entry into the molecular biology research area and hereby enabled signature expression profiling of whole species genomes. Perhaps no other methodological approach has transformed molecular biology more in recent years than the use of microarrays. Microarray technology has led the way from studies of the individual biological functions of a few related genes, proteins or, at best, pathways towards more global investigations of cellular activity. The development of this technology immediately yielded new and interesting information, and has produced more data than can be currently dealt with. It has also helped to realize that even a ‘horizontally exhaustive’ molecular analysis is insufficient. Applications of this tool in primary immunodeficiency studies have generated new information, which has led to a better understanding of the underlying basic biology of the diseases. Also, the technology has been used as an exploratory tool to disease genes in immunodeficiency diseases of unknown cause as in the case of the CD3δ-chain and the MAPBPIP deficiency. For Xlinked agammaglobulinemia, the technique has provided better understanding of the genes influenced by Btk. There is considerable hope that the microarray technology will lead to a better understanding of disease processes and the molecular phenotypes obtained from microarray experiments may represent a new tool for diagnosis of the disease.

Keywords: Microarrays, gene expression profiling, primary immunodeficiency, B-lymphocyte, X-linked agammaglobulinemia (XLA), bruton tyrosine kinase (Btk)

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