Spectra of RAG deficiency from Salvic countries

Reference: Sharapova, Svetlana O., et al. “The clinical and genetic spectrum of 82 patients with RAG deficiency including a c. 256_257delAA founder variant in Slavic countries.” Frontiers in Immunology 11 (2020): 900.

Journal: Frontiers in Immunology


  1.  82 patients with RAG deficiency (67 RAG1 & 15 RAG2) from Salvic countries were retrospectively evaluated to study clinical, immunological, molecular and demographic characteristics 
  2. The patients were segregated into SCID phenotype (20), Omenn syndrome (37), atypical SCID (21) and CID(4)
  3. 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
  4. Gastrointestinal and skin autoimmunity was also commonly seen in OS  group where as in AS and CID groups, autoimmune cytopenia were common
  5. 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
  6. 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 

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