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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...

Primary Lymphoid Organs

Primary Lymphoid Organs

Primary lymphoid organs are pivotal in the formation, development, and maturation of lymphocytes, the white blood cells that serve as the backbone of our immune system. This crucial function underscores their fundamental role in maintaining our overall health and immunity. The two primary lymphoid organs of prime importance are the red bone marrow and the thymus.
The red bone marrow is a soft, spongy tissue nestled in the interior of long bones such as the humerus and femur. It is the site...

Secondary Lymphoid Organs

Secondary Lymphoid Organs

Secondary organs, including lymph nodes, the spleen, and mucosa-associated lymphoid tissue (MALT), work harmoniously to protect us from disease and infection.
The spleen is a vital organ in the lymphatic system, nestled in the upper left side of the abdomen. It is composed of two primary regions: the red pulp and the white pulp, each having distinct functions. The red pulp performs a significant role in blood filtration. It efficiently purges the blood of old or damaged red blood cells and...

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Skin Biopsy for Diagnosing Discoid Lupus Erythematosus

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Diagnostic Modalities in Primary Immunodeficiency.

Loveita S Raymond^1,2, Jennifer Leiding³, Lisa R Forbes-Satter^4,5,6

¹Department of Medicine, Baylor College of Medicine, Houston, USA.

Clinical Reviews in Allergy & Immunology

|March 15, 2022

Summary

This summary is machine-generated.

This study details diagnostic strategies for inborn errors of immunity (IEI). It emphasizes a structured approach, from patient history to advanced genetic testing, to improve diagnostic accuracy in this expanding field.

Keywords:

Diagnostic modalities Evaluation Immune dysregulation Immunodeficiency Inborn errors of immunity Testing

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Area of Science:

Immunology
Clinical Diagnostics
Genetics

Background:

The field of inborn errors of immunity (IEI) is rapidly expanding.
Accurate diagnosis requires continuous refinement of laboratory testing and diagnostic approaches.

Purpose of the Study:

To provide a mechanistic consideration of laboratory testing for IEI.
To outline a systematic approach for evaluating patients with suspected IEI based on established phenotypic categories.
To highlight the importance of integrating clinical evaluation with advanced molecular diagnostics.

Main Methods:

Review of current laboratory testing modalities for IEI, including benefits and drawbacks.
Presentation of an evaluation framework for patients with suspected IEI, aligned with the International Union of Immunological Societies 2019 phenotypic categories.
Discussion of diagnostic steps including history taking, physical examination, enumeration and functional testing, and genetic analyses.

Main Results:

Currently available laboratory testing modalities for IEI have both advantages and limitations.
A thorough patient history and physical examination are crucial for guiding subsequent diagnostic tests.
A tiered diagnostic strategy, progressing from clinical assessment to genetic testing, is essential for accurate IEI diagnosis.

Conclusions:

A structured diagnostic roadmap is vital for navigating the complexities of inborn errors of immunity.
Integrating clinical evaluation with appropriate laboratory and genetic testing enhances diagnostic accuracy.
This approach aids in identifying the molecular etiology of various IEI phenotypes.