Miloš Jeseňák, Zuzana Rennerová, Zuzana Vojtušová, Ivana Plameňová, Peter Bánovčin
Part 6: Other, well defined immunodeficiency syndromes – syndromes with chromosomal instability Other, well defined immunodeficiency syndromes present a group of inherited defects of immunity, which was established on the basis of revised classification of Europe Society for Immunodeficiencies. Recently, all this disorders were involved in the classical groups of defects of specific and non-specific, cellular or antibody immunity. For this disorders is, besides the present immunodeficiency, characteristic an association of various clinical and laboratory symptoms creating particular clinical syndromes. One special part of this diseases is presented by the syndromes associated with chromosomal instability caused by the defects in the repair processes of the nuclear DNA. Besides other typical symptoms, there is also increased radiosensitivity and high incidence of tumours. Therapy is complex and multidisciplinar and the prognosis of the patients depends not only on the degree of immunodeficiency but also on the other concomitant defects. It is also necessary to minimize the exposure to radiation.
ey words: chromosomal instability, immunodeficiency, complex clinical manifestation, syndrome