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Related Experiment Video

Updated: Dec 2, 2025

Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR

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Optimising immunisation in children with 22q11 microdeletion.

Angela Berkhout¹, Kahn Preece², Vanil Varghese³

¹The Queensland Children's Hospital Brisbane, Infection Prevention & Managament, 501 Stanley St, South Brisbane, QLD 4101, Australia.

Therapeutic Advances in Vaccines and Immunotherapy

|November 5, 2020

Summary

Children with 22q11 microdeletion syndrome often have mild-to-moderate immunodeficiency. This study proposes a new pathway for immunological investigation and live vaccination to improve care and consistency for these patients.

Keywords:

22q11 microdeletion syndrome DiGeorge syndrome immunisation velo-cardiofacial syndrome

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Published on: September 23, 2022

Area of Science:

Pediatric Immunology
Genetics
Vaccinology

Background:

22q11 microdeletion syndrome presents with diverse symptoms, including variable immunodeficiency.
Current live vaccine practices and pre-vaccination immunological testing lack standardized guidelines, causing clinical variability.

Purpose of the Study:

To describe live vaccination status and adverse events in children with 22q11 microdeletion.
To propose a standardized immunological investigation and vaccination pathway for this population.

Main Methods:

Retrospective review of 134 children (0-18 years) with 22q11 microdeletion at a state-wide clinic.
Analysis of live vaccination status, adverse events following immunisation (AEFI), and pneumococcal vaccine coverage.
Observation of pre-vaccination immunological investigation practices.

Main Results:

82% received first MMR dose, 77% completed two doses; 66% completed varicella immunization.
No adverse events following immunisation were reported.
Immunological workup varied; most patients showed mild-to-moderate immunodeficiency.

Conclusions:

A proposed immunological investigation and vaccination pathway aims to provide clinical guidance.
Standardization is needed for safe and consistent live vaccine administration in children with 22q11 microdeletion.