Primary immunodeficiencies are rare genetic diseases of the immune system. The manifestations of primary immunodeficiencies are extremely varied, often hidden under different masks. Despite the creation of alarm signs and improvement of diagnosis there are situations of delaying the diagnosis of primary immunodeficiency.
Aim: to determine the structure of primary immunodeficiencies among the pediatric population in Moldova
Over 25 years at the Institute of Mother and Child were evaluated 51 children with primary immunodeficiency 0-18 years of age by (general blood analysis, serum immunoglobulin determination, lymphocyte immunophenotyping, morphology and immunohistochemistry, molecular genetic methods)
36 patients (70%) were diagnosed postmortem by degrading the specific features of the immune system organs and other organs. Of these 7 patients had DiGeorge syndrome with agenesis or hypoplasia of the thymus; 4 - Louis Bar syndrome, 4 - SCID type Nezelof, 6 - Swiss type SCID and 15 (41.6%) were diagnosed with non-classifiable primary immunodeficiency. Based on the evaluation of the alarm signs, the diagnosis was suspected and confirmed in 15 patients (30%): 3 – Bruton, 1 patient with SCID, 1 - CVID, 1 - hyper IgM and 9 patients with well-defined syndromes (3 - Louis Bar, 3 - WAS, 1 - Bloom, 1 - DiGeorge).
Morphopathological evaluation is important for diagnosis of PID. But the focus should be put on multidisciplinary collaboration to increase the early diagnosis rate of children with immunodeficiency.