Autoimmunity and Genetic Syndromes

Dear Colleagues, 

Genetic syndromes represent relevant and rare diseases, including a large number of epidemiological, pathogenetic and clinical features.  Autoimmunity commonly features many well-known genetic conditions, such as Turner syndrome (TS), Trisomy 21 or Down syndrome (DS), 22q11.2 deletion syndrome (22q11.2DS); however, the susceptibility toward this disorder has been recently investigated for many other genetic syndromes, such as Kabuki, and Klinefelter. Abnormalities of the immune system are also reported in patients affected by RASopathies.

A systematic approach to genetic syndromes is often prevented by the rareness of these diseases. Hence, although clinical features are usually precisely defined, more uncommon associations between genetic syndromes and internal medicine related diseases are, at present, insufficiently studied.

Therefore, the purpose of this Special Issue is to better outline the characteristics of autoimmune problems in the main genetic syndromes, as well as in the rarer ones, toward facilitating a better understanding of these syndromes.

Dr. Stefano Stagi
Guest Editor

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