DOMINATION OF G.380-382DELAA MUTATION AMONG 46 CHILDREN WITH RAG1 DEFICIENCY FROM SOUTH, WEST AND EAST SLAVIC POPULATIONS

Abstract

Background: Mutations in Recombination-activating genes (RAG) are common genetic causes of severe combined immunodeficiency (SCID) and Omenn syndrome (OS) and can cause a wide variety of clinical and immunological phenotypes in humans, ranging from absence of T and B-lymphocytes to occurrence of autoimmunity. Aim- estimate the genetic diversity and clinical presentation of patients with the RAG1 defects within Slavic populations. Methods: We analyzed retrospectively the mutations and the clinical presentation in 46 patients with RAG1 deficiency from South, West and East Slavic populations. Results: The data of 46 patients (20 females, 26 males) from 38 families of Slavic origin (East: Russia–11, Belarus – 2, Ukraine–4; West: Poland–11, Czech Republic–4, Slovakia–2; South: Serbia–7, Slovenia–3, Montenegro–1, Croatia–1) was collected. Patients manifested as SCID – 14, as OS – 23 and atypical