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Article

Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Jan 2022

Tengsujaritkul Maliwan, Suratannon Narissara, Ittiwut Chupong, Ittiwut Rungnapa, Chatchatee Pantipa, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

BACKGROUND: Inborn errors of immunity (IEI) comprise more than 400 rare diseases with potential life-threatening conditions. Clinical manifestations and genetic defects are heterogeneous and diverse among populations. Here, we aimed to characterize the clinical, immunologic, and genetic features of Thai pediatric patients with IEI. The use of whole-exome sequencing (WES) in diagnosis and clinical decision making...

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PMID: 34796988
DOI: 10.1111/pai.13701

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