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Current Allergy and Asthma Reports

Erschienen in:

10.03.2023

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management

verfasst von: Sarah E. Biggs, Bailee Gilchrist, Kathleen R. May

Erschienen in: Current Allergy and Asthma Reports | Ausgabe 4/2023

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Abstract

Purpose of Review

This review focuses on immunologic findings, relationships among immunologic findings and associated conditions of autoimmunity and atopy, and management of immunologic disease in chromosome 22q11.2 deletion syndrome (22q11.2DS, historically known as DiGeorge syndrome).

Recent Findings

The implementation of assessment of T cell receptor excision circles (TRECs) in newborn screening has led to increased detection of 22q11.2 deletion syndrome. While not yet applied in clinical practice, cell-free DNA screening for 22q11.2DS also has the potential to improve early detection, which may benefit prompt evaluation and management. Multiple studies have further elucidated phenotypic features and potential biomarkers associated with immunologic outcomes, including the development of autoimmune disease and atopy.

Summary

The clinical presentation of 22q11.2DS is highly variable particularly with respect to immunologic manifestations. Time to recovery of immune system abnormalities is not well-defined in current literature. An understanding of the underlying causes of immunologic changes found in 22q11.2DS, and the progression and evolution of immunologic changes over the lifespan have expanded over time and with improved survival. An included case highlights the variability of presentation and potential severity of T cell lymphopenia in partial DiGeorge syndrome and demonstrates successful spontaneous immune reconstitution in partial DiGeorge syndrome despite initial severe T cell lymphopenia.

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Titel: Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management
verfasst von: Sarah E. Biggs
Bailee Gilchrist
Kathleen R. May
Publikationsdatum: 10.03.2023
Verlag: Springer US
Erschienen in: Current Allergy and Asthma Reports / Ausgabe 4/2023
Print ISSN: 1529-7322
Elektronische ISSN: 1534-6315
DOI: https://doi.org/10.1007/s11882-023-01071-4

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