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. 2020 May 17;9(5):e1138.
doi: 10.1002/cti2.1138. eCollection 2020 May.

Screening for primary immunodeficiency diseases by next-generation sequencing in early life

Jinqiao Sun  1 , Lin Yang  2 , Yulan Lu  3   4 , Huijun Wang  4 , Xiaomin Peng  4 , Xinran Dong  4 , Guoqiang Cheng  5 , Yun Cao  5 , Bingbing Wu  4 , Xiaochuan Wang  1 , Wenhao Zhou  5
Affiliations

Screening for primary immunodeficiency diseases by next-generation sequencing in early life

Jinqiao Sun et al. Clin Transl Immunology. .

Abstract

Objective: We aimed to use next-generation sequencing (NGS) for the early diagnosis of primary immunodeficiency diseases (PIDs) and define its effects on medical management for an infant cohort in early life.

Methods: A single-centre study was conducted from November 2015 to April 2018. Infants less than 3 months old with infections or abnormal white blood cell counts were enrolled in the study. Gene variants were analysed by NGS, and once a mutation was found in a PID-associated gene, the immune functions associated with this mutation were detected. The diagnosis rate of PIDs in the cohort was the main outcome. The patients received corresponding management and follow-up treatments.

Results: Among 2392 patients who were genetically tested with NGS, 51 infants were diagnosed with PIDs. Seven types of PIDs were detected, and the most common (25/51, 49%) were combined immunodeficiencies with associated or syndromic features. Thirty-five patients (68.6%) were cured or had improved outcomes after being diagnosed with PID. The NGS cost was US$280 per case.

Conclusions: This study not only highlighted the potential of NGS to rapidly deliver molecular diagnoses of PIDs but also indicated that the prevalence of PIDs is underestimated. With broader use, this approach has the potential to alter clinical strategies.

Keywords: clinical utility; infants; next‐generation sequencing; primary immunodeficiency diseases.

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Conflict of interest statement

The authors declare no competing financial interests.

Figures

Figure 1
Figure 1
Enrolment and the outcomes of subjects participating in the study. PID, primary immunodeficiency diseases; WBC, white blood cell.
Figure 2
Figure 2
Primary immunodeficiency diseases types, disease‐causing genes and the number of cases identified in the infant cohort in this study.
Figure 3
Figure 3
Top 10 primary immunodeficiency diseases‐causing genes and the number of cases in the infant cohort in this study.
See this image and copyright information in PMC

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