REVIEW - X-linked primary immunodeficiencies as a bridge to better understanding of X-chromosome related autoimmunity

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J Autoimmun. 2009 Apr 8.

X-linked primary immunodeficiencies as a bridge to better

understanding of X-chromosome related autoimmunity.

Pessach IM, Notarangelo LD.

Division of Immunology, Children's Hospital, Harvard Medical School,

Boston, MA, USA; The Talpiot Medical Leadership Program, Safra

children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.

Recent studies indicate that genes located on the X-chromosome play a

major and unique role in autoimmunity. The fact that most X-linked

primary immune deficiencies carry significant autoimmune

manifestations greatly supports this notion. Autoimmunity and immune

deficiency have been considered two opposite extremes resulting from

immune dysregulation and failure of immune development and/or

function, respectively. Growing evidence has been accumulating to

indicate that autoimmune phenomena occur in patients suffering from

primary immune deficiency (PID), and the molecular and cellular

mechanisms that interconnect these conditions are being unraveled. The

study of rare single-gene disorders associated with significant

autoimmunity may shed light on the pathophysiology of more complex

multifactorial and polygenic autoimmune disorders. In this regard,

primary immunodeficiencies represent unique " experiments of Nature "

that illustrate the critical role played by single-gene products in

the development, function and homeostasis of the immune system. In

this review we will focus on the clinical features and on the cellular

and molecular pathophysiology of the known X-linked PID in which

autoimmune manifestations are more common, in the attempt to

understand what single-gene defects can teach us on the role that key

immune pathways and cellular processes may play to prevent

autoimmunity.

PMID: 19361956

http://www.ncbi.nlm.nih.gov/pubmed/19361956

Not an MD