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Immunodeficiency Diseases

Immunodeficiency Diseases

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...

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VDJ-Seq: Deep Sequencing Analysis of Rearranged Immunoglobulin Heavy Chain Gene to Reveal Clonal Evolution Patterns of B Cell Lymphoma

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Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.

Mingyan Fang^1,2, Hassan Abolhassani^1,3, Che Kang Lim^1,4

¹Department of Laboratory Medicine, Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, -141 86, Stockholm, SE, Sweden.

Journal of Clinical Immunology

|March 20, 2016

Summary

Primary immunodeficiency diseases (PIDs) are diverse genetic disorders. Next-generation sequencing (NGS) aids in identifying PID genes and molecularly diagnosing these rare diseases, guiding future research.

Keywords:

Primary immunodeficiency (PIDs)candidate gene screening next generation sequencing

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T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing

T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing

Published on: January 12, 2021

Area of Science:

Immunology
Genetics
Medical Diagnostics

Background:

Primary immunodeficiency diseases (PIDs) represent a heterogeneous group of over 300 distinct genetic disorders affecting the immune system.
Accurate molecular diagnosis is crucial for effective management and treatment of PIDs.

Purpose of the Study:

To summarize practical considerations for interpreting Next-Generation Sequencing (NGS) data in the context of PIDs.
To outline techniques for identifying disease-related PID genes using NGS.
To propose future research directions in PID gene discovery and diagnostics.

Main Methods:

Review and synthesis of current literature on NGS data interpretation for PIDs.
Discussion of established and emerging techniques for PID gene identification.
Analysis of challenges and opportunities in PID research.

Main Results:

NGS is a powerful tool for gene identification and molecular diagnosis of PIDs.
Standardized interpretation of NGS data is essential for accurate PID diagnosis.
Several techniques are available for searching PID-related genes, with ongoing advancements.

Conclusions:

NGS has revolutionized the diagnostic approach to PIDs.
Further research is needed to refine NGS data analysis and expand the repertoire of identified PID genes.
Collaborative efforts are key to advancing PID research and improving patient outcomes.