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Primary Atopic Disorders.

Joshua D Milner¹

¹Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA;

Annual Review of Immunology

|March 4, 2020

Summary

This summary is machine-generated.

Primary atopic disorders are rare genetic diseases with allergy symptoms. Studying these conditions reveals key pathways in atopy, aiding diagnosis and treatment for both rare and common allergic diseases.

Keywords:

Th2 allergy genetics mast cell function monogenic primary atopic disorders skin barrier

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Area of Science:

Genetics and immunology of allergic diseases.
Monogenic disorders with atopic manifestations.

Background:

Primary atopic disorders are monogenic diseases presenting with significant allergy or atopic symptoms.
These conditions offer insights into fundamental atopy pathways, relevant for both rare and common allergies.
Affected pathways include immune signaling (TCR, BCR, cytokine), skin barrier, and mast cell function.

Purpose of the Study:

To elucidate the genetic underpinnings of primary atopic disorders.
To explore the diagnostic and therapeutic implications of these genetic findings for atopy.
To understand the spectrum of genetic etiologies in allergic diseases.

Main Methods:

Analysis of pathogenic genetic lesions in primary atopic disorders.
Investigation of affected molecular and cellular pathways.
Comparison with complex genetic and environmental factors in common allergies.

Main Results:

Identified key genetic pathways involved in T cell receptor and B cell receptor signaling, cytokine signaling, skin barrier function, and mast cell function.
Demonstrated that primary atopic disorders can present solely with allergy symptoms, without other syndromic features or immune deficiency.
Highlighted the spectrum of genetic etiologies, from monogenic to complex, influencing allergic diseases.

Conclusions:

Primary atopic disorders provide crucial insights into the pathogenesis of atopy.
Understanding these monogenic conditions can lead to improved diagnostics and therapeutics for allergic diseases.
Common allergic diseases may exist on a continuum with monogenic disorders, influenced by environmental factors.