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Genetic Mutations and Immunological Features of Severe Combined Immunodeficiency Patients in Iran Publisher Pubmed



Shahbazi Z1 ; Yazdani R2 ; Shahkarami S3 ; Shahbazi S4 ; Hamid M1 ; Sadeghishabestari M5 ; Momen T6 ; Aleyasin S7 ; Esmaeilzadeh H7 ; Darougar S8 ; Delavari S2 ; Mahdaviani SA9 ; Ahanchian H10 ; Behmanesh F7 Show All Authors
Authors
  1. Shahbazi Z1
  2. Yazdani R2
  3. Shahkarami S3
  4. Shahbazi S4
  5. Hamid M1
  6. Sadeghishabestari M5
  7. Momen T6
  8. Aleyasin S7
  9. Esmaeilzadeh H7
  10. Darougar S8
  11. Delavari S2
  12. Mahdaviani SA9
  13. Ahanchian H10
  14. Behmanesh F7
  15. Kiaee F11
  16. Chavoshzade Z12
  17. Shariat M13
  18. Keramatipour M14
  19. Rezaei N2
  20. Abolhassani H2
  21. Parvaneh N2
  22. Mahdian R1
  23. Aghamohammadi A2

Source: Immunology Letters Published:2019


Abstract

Background: Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency disorders that is characterized by impaired early T lymphocyte differentiation and is variably associated with abnormal development of other lymphocyte lineages. SCID can be caused by mutations in more than 20 different genes. Molecular diagnosis in SCID patients contributes to genetic counseling, prenatal diagnosis, treatment modalities, and overall prognosis. In this cohort, the clinical, laboratory and genetic data related to Iranian SCID patients were comprehensively evaluated and efficiency of stepwise sequencing methods approach based on immunophenotype grouping was investigated Methods: Clinical and laboratory data from 242 patients with SCID phenotype were evaluated. Molecular genetic analysis methods including Sanger sequencing, targeted gene panel and whole exome sequencing were performed on 62 patients. Results: Mortality rate was 78.9% in the cohort with a median follow-up of four months. The majority of the patients had a phenotype of T-NK-B+ (34.3%) and the most severe clinical manifestation and highest mortality rate were observed in T-NK-B- SCID cases. Genetic mutations were confirmed in 50 patients (80.6%), of which defects in recombination-activating genes (RAG1 and RAG2) were found in 16 patients (32.0%). The lowest level of CD4+ and CD8+ cells were observed in patients with ADA deficiency (p = 0.026) and IL2RG deficiency (p = 0.019), respectively. Conclusion: Current findings suggest that candidate gene approach based on patient's immunophenotype might accelerate molecular diagnosis of SCID patients. Candidate gene selection should be done according to the frequency of disease-causing genes in different populations. Targeted gene panel, WES and WGS methods can be used for the cases which are not diagnosed using this method. © 2019
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