Introducere. Maladiile imunodeficitare (MID) acompaniate de mutaţii sau aberaţii cromozomiale complică mult diagnosticul şi selecţia metodelor terapice. Ele constituie o problemă majoră pentru medicina publică, dată fiind complexitatea lor clinică, dificultăţile de diagnostic şi creşterea impetuoasă a prevalenţei acestora în ultimii ani. Scopul lucrării. Lucrările la acest capitol au drept finalitate elaborarea unui algoritm de diagnostic performant şi formularea unor programe curative inedite de imunoterapie şi imunoreabilitare cu remedii imunotrope, inclusiv autohtone. Material şi metode. Pentru realizarea obiectivelor trasate au fost utilizate metode de screening şi tehnologii inovaţionale performante de diagnostic molecular-genetic cu crearea băncii ADN-lui pacienţilor cu maladii imunodeficitare primare şi analiza mutaţiilor genelor implicate în declanşarea acestor maladii (Btk, CD40l, TACI, WAS, ATM, NBS, SH2DI, ELANE prin utilizarea SSCP, PCR şi QPCR). Rezultate. Din cei 27 de pacienţi cu suspecţie la maladii imunodeficitare în baza manifestărilor clinice şi imunologice au fost depistate 2 cazuri de mutaţie a genelor responsabile de apariţia unei maladii imunodeficitare: ataxia – teleangiectazia şi sindromul Wiskott – Aldrich, confirmate prin investigaţii molecular-genetice. Concluzii. (1) MID depistate în cercetările preliminare denotă o frecvenţă de cca 7,4 cazuri la 100000 de populaţie fiind mai frecvente de cca 3 ori comparative cu ţările europene, ceea ce presupunem că se datorează situaţiei ecologice nefavorabile şi mutaţiilor genetice posibile. (2) Anual, conform calculelor noastre, in Republica Moldova se nasc 2 copii cu imunodeficienţă primară.

Introduction. Immunodeficiency diseases (ID) accompanied by mutations or chromosomal aberrations become much involved in diagnosing and selection of therapeutical methods. They constitue a major problem for public medicine due to their clinical complexity, diagnosing difficulties and impetuous increase of their prevailance in the last years. Objective of the study. Such works have the purpose to work out an algorithm for a competitive diagnosis and set up some curative and new programs of immunotherapy and immune rehabilitation with immunotherapic remedies, including the native ones. Material and methods. To achieve these objectives we used methods of screening and new technologies of molecular-genetic diagnosis by creating of DNA bank of the patients suffering of primary immunodeficiency diseases and the analysis of mutation of genes involved in starting of these diseases (Btk, CD40l, TACI, WAS, ATM, NBS, SH2DI, ELANE using SSCP, PCR and QPCR). Results. Of the 27 patients suspected of immunodeficiency diseases based on clinical and immunological manifestations, 2 case of mutation of gene were revealed, being responsible for the appearance of a immunodeficit diseases: ataxia-teleangiectasia and Wiskott-Aldrich syndrome, confirmed by molecular-genetic investigations. Conclusions. (1) The IDD revealed during preliminary indicate a frequency of 7,4 of cases in 100000 of populations being more frequent by more than 3 times compared with European countries and we suggest it being the unfavorable environement and of possible genetic mutations. (2) Accordin to our estimations annually in Republic of Moldova 2 children are born with primary immunodeficiency.