Journal: Frontiers in Immunology
Summary:
- 82 patients with RAG deficiency (67 RAG1 & 15 RAG2) from Salvic countries were retrospectively evaluated to study clinical, immunological, molecular and demographic characteristics
- The patients were segregated into SCID phenotype (20), Omenn syndrome (37), atypical SCID (21) and CID(4)
- Most patients with RAG1 variant presented with OS, and were diagnosed during infancy and increased prevalence of CMV infections was observed in AS group with only a fraction of them developing BCG complications
- Gastrointestinal and skin autoimmunity was also commonly seen in OS group where as in AS and CID groups, autoimmune cytopenia were common
- p.K86Vfs∗33 variant is seen in 70% RAG1 patients most of whom originated from Vistula watershed area and have a heterogeneous clinical and immunological phenotype
- Of the 15 RAG2 patients, 7 were SCID, 6 were OS and 2 were AS, though 53% variants were homozygous, consanguinity was present in only 1 family
Bottom line: Minimal annual incidence of RAG deficiency in Salvs is between 1:1,80,000 to 1:3,00,000. High incidence of RAG SCID in central and eastern Poland may be due to the founder p.K86Vfs∗33 RAG1 mutation and access to HSCT can improve their survival