Molecular diagnosis of primary immunodeficiencies and newly identified primary immunodeficiency diseases
MAO Hua-wei
Abstract：Primary immunodeficiencies (PIDs) are a type of rare disease characterized by a defect in the components of host immune system,the majority of which are monogenic diseases.Molecular diagnosis is important to the precision management of PIDs.Traditional Sanger sequencing and next-generation sequencing(NGS) are the major tools.Although the former one is the gold standard of checking single target gene and of confirming NGS results,NGS is also in increasing demand in clinical practice.Both of them have pros and cons,and are complementary to each other.A 4-step approach strategy comprising Sanger sequencing and NGS is proposed for the molecular diagnosis of PIDs by the author.Some suggestions for the NGS application are also provided.
Keywords：primary immunodeficiency diseasemolecular diagnosisSanger sequencingnext-generation sequencingwhole exome sequencingwhole genome sequencing
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 491-496 )