Open AccessEarly diagnostics of severe combined immunodeficiencies
Author(s) -
L. Kostiuchenko
Publication year - 2014
Publication title -
bukovinsʹkij medičnij vìsnik
Language(s) - English
Resource type - Journals
eISSN - 2413-0737
pISSN - 1684-7903
DOI - 10.24061/2413-0737.xviii.4.72.2014.195
Subject(s) - severe combined immunodeficiency , disease , medicine , immunodeficiency , pediatrics , newborn screening , immunology , family history , biology , immune system , gene , genetics
Severe combined immunodeficiency is a big group of genetically determined immunological defects with a profound quantitative and/or functional deficiency of T- and B-cells, and sometimes NK-cells. The article contains our own experience of observation of patients with severe combined immunodeficiencies to establish early clinical and laboratory markers of SCID. A clinical, genealogical and laboratory analysis of 22 SCID patients and a comparison group was performed, the most common symptoms of this kind of PID and the time of their appearance were identified. It was found that the SCID patients do not have specific sings up to the manifestation of clinical symptoms of infections, and as early signs of the disease can be considered an eventful family history with children deaths at early age and lymphopenia below 3.0 х109 / l in 77,3 % of patients that can be used as screening laboratory finding in our country. An algorithm for diagnosis of SCID was proposed and the feasibility of practical implementation of neonatal screening for this disease was discussed.