Analysis of clinical phenotype and genetic diagnosis in patients with Omenn syndrome
10.3969/j.issn.1000-3606.2018.02.007
- VernacularTitle:Omenn综合征临床表型及分子诊断
- Author:
Jiantao YUAN
1
;
Ting LEI
Author Information
1. 咸宁市第一人民医院检验科 湖北咸宁 437000
- Keywords:
omenn syndrome;
immunodeficiency disease;
genetic testing
- From:
Journal of Clinical Pediatrics
2018;36(2):117-120
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical features and genetic change of Omenn syndrome. Method Clinical data of two sporadic patients with Omenn syndrome and their family members were collected, and next generation sequencing was used to analyze immunodeficiency associated genes. Results Two patients (one boy and one girl) had a history of recurrent infection and skin rash. The level of IgA, IgM and IgG was decreased. Both of them have a lower level of CD8+T lymphocytes and CD19+B lymphocytes, but the number of NK cells increased. Sequencing found a homozygous mutation (c.1211G>A) in RAG1 gene in the girl,and both her father and mother were heterogeneous carrier of this mutation.In the boy,we found novel compound heterozygous mutations,c.830A>G and c.104G>C in RAG2R gene,inherited from his mother and father,respectively. Bioinformatics predicts that these two mutations are likely to be pathogenic. Conclusions The age of Omenn syndrome onset was earlier, with compromised immunological function. Gene detection was helpful for early diagnosis. We found that two novel mutations in RAG2R could cause Omenn syndrome.
