Article

Phenotypic Heterogeneity and Genotypic Spectrum of Primary Immunodeficiencies with Whole Exome Sequencing in a Thai Patient Cohort

2021-08-06

Abstract excerpt

<h4>Background: </h4> Primary immunodeficiency diseases (PIDs) 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, immunological and genetic features of Thai pediatric patients with PIDs. The use of whole exome sequencing (WES) in diagnosis and clini...

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Literature Corpus work: 75e3cea2-5c8d-5ef6-a6b5-c5d9e4f3b252
DOI: 10.22541/au.162826615.59279018/v1

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