Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Overview

Journal J Clin Immunol

Publisher Springer

Specialty Allergy & Immunology

Date 2023 Jan 17

PMID 36648576

Authors

Peter J Mustillo

Kathleen E Sullivan

Ivan K Chinn

Luigi D Notarangelo

Elie Haddad

E Graham Davies

Maria Teresa de la Morena

Nicholas Hartog

Joyce E Yu

Vivian P Hernandez-Trujillo

Winnie Ip

Jose Franco

Eleonora Gambineri

Scott E Hickey

Elizabeth Varga

M Louise Markert

Affiliations

Soon will be listed here.

Abstract

Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) and coloboma, heart defect, atresia choanae, retardation of growth and development, genital hypoplasia, ear anomalies/deafness (CHARGE) syndrome. Practice variations affect the initial and subsequent assessment of immune function, the terminology used to describe the condition and immune status, the accepted criteria for recommending live vaccines, and how often follow-up is needed based on the degree of immune compromise. The lack of consensus and widely varying practices highlight the need to establish updated immunological clinical practice guidelines. These guideline recommendations provide a comprehensive review for immunologists and other clinicians who manage immune aspects of this group of disorders.

Citing Articles

Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.

Purow J, Waidner L, Ale H Clin Rev Allergy Immunol. 2025; 68(1):23.

PMID: 40038168 DOI: 10.1007/s12016-025-09035-4.

Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia.

Patil R, Hunter J, Knutsen A, Braddock S J Allergy Clin Immunol Glob. 2025; 4(2):100416.

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Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a variant and severe persistent T cell lymphopenia.

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Mortality in Patients with 22q11.2 Rearrangements.

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