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Updated: Dec 20, 2025
Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
Gene analysis of seven cases of primary immunodeficiency
Ying Zhu1, Li Li1, Guoshun Mao1
1Department of Pediatrics, Fuyang City People's Hospital, Fuyang 236000, China.
Insights
Primary immune deficiency diseases (PID) involve inherited immune system defects causing recurrent infections. High-throughput sequencing aids in diagnosing PID by identifying pathogenic gene mutations in children.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Primary immune deficiency diseases (PID) are inherited disorders affecting the immune system, leading to increased susceptibility to infections.
- Early identification and characterization of PID are crucial for managing recurrent infections and improving patient outcomes.
Purpose of the Study:
- To investigate the clinical characteristics and identify pathogenic gene mutations in children diagnosed with primary immune deficiency diseases.
- To highlight the importance of timely genetic analysis in the diagnosis of PID.
Main Methods:
- Analysis of clinical data, manifestations, and gene sequencing results from seven pediatric patients.
- Utilized high-throughput sequencing (Next-Generation Sequencing - NGS) to detect genetic variations.
Main Results:
- Seven children (6 male, 1 female; aged 4 months to 13 years) with recurrent infections and pneumonia were studied.
- Mutations were identified in genes including BTK, CYBB, IL2RG, and STAT1.
- Four cases represented new mutations, while three were inherited from mothers.
Conclusions:
- Abnormal immunologic indices in children with recurrent infections warrant suspicion for PID.
- High-throughput sequencing is a valuable tool for the timely and accurate diagnosis of primary immune deficiency diseases.
Background:
Primary immune deficiency diseases (PID) are a group of potentially serious disorders in which inherited defects in the immune system lead to increased infections. This paper explores the clinical characteristics and pathogenic gene mutation of PID.
Methods:
The clinical data, clinical manifestations, and gene sequencing results of seven children were analyzed.
Results:
Among the seven children, six were male, and one was female, aged from 4 months to 13 years old. All of them had a history of repeated infection and pneumonia. High throughput sequencing (NGS) showed that the BTK gene of case 1 had c.1921c > t mutation; the BTK gene of case 2 had c.906-908del splice site mutation; the BTK gene of case 3 had c.718delg mutation; the cybb gene of case 4 had c.469c > t mutation; the IL2RG gene of case 5 had c.202g > A mutation; the STAT1 gene of case 6 had c.854a > G mutation; the case 7 had c.718delg mutation. There was c.1154c > t mutation in the STAT1 gene. Cases 1, 3, 6 and 7 were new mutations, and cases 2, 4, and 5 were inherited from mothers.
Conclusions:
In clinical cases of children with recurrent infection, the immunologic index is abnormal, so we need to be highly aware of the possibility of PID, and timely high-throughput sequencing is helpful for the diagnosis.
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