Clinical features and gene mutations of primary immunodeficiency disease: an analysis of 7 cases / 中国当代儿科杂志
Zhongguo dangdai erke zazhi
; Zhongguo dangdai erke zazhi;(12): 285-289, 2018.
Article
in Zh
| WPRIM
| ID: wpr-689640
Responsible library:
WPRO
ABSTRACT
This research investigated the clinical features of immunodeficiency disease and the features of the mutation of its pathogenic genes. All 7 patients were boys aged 5 months to 4 years and 6 months and had a history of recurrent respiratory infection and pneumonia, low levels of IgM and IgG, and abnormal absolute values or percentages of lymphocyte subsets. High-throughput sequencing showed c.1684C>T mutations in the BTK gene in patient 1 and IVS8+2T>C splice site mutations in the BTK gene in patient 2. Both of these mutations came from their mothers. Patients 3, 4, and 5 had mutations in the IL2RG gene, i.e., c.298C>T, IVS3-2A>G, and c.164T>A, among which c.164T>A mutations had not been reported. Patient 6 had c.204C>G mutations in the RAG2 gene. Patient 7 had complex heterozygous mutations of c.913C>T and c.824G>A in the RAG2 gene, which came from his father and mother, respectively. Patients with immunodeficiency disease have abnormal immunological indices, and high-throughput sequencing helps to make a definite diagnosis.
Full text:
1
Index:
WPRIM
Main subject:
Therapeutics
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Protein-Tyrosine Kinases
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Nuclear Proteins
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Computational Biology
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Agammaglobulinemia
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Genetic Diseases, X-Linked
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DNA-Binding Proteins
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Interleukin Receptor Common gamma Subunit
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High-Throughput Nucleotide Sequencing
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Agammaglobulinaemia Tyrosine Kinase
Limits:
Child, preschool
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Humans
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Infant
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Male
Language:
Zh
Journal:
Zhongguo dangdai erke zazhi
Year:
2018
Type:
Article