Background
DiGeorge syndrome (also known as velocardiofacial syndrome or 22q11.2 deletion syndrome) is a genetic condition affecting approximately 1 in 2,000 newborns. It involves the deletion of DNA in the q11 region of the long arm of chromosome 22 during foetal development. Most cases occur as the result of a random gene mutation. However, in some instances the mutation can be inherited from a parent.
The health implications of the deleted DNA sequence can vary between individuals. Common features include congenital heart defects, small or absent thymus, cleft or palate abnormalities, speech/language and developmental delay, hearing and visual problems, and learning difficulties. Immunodeficiency is also commonly associated with DiGeorge syndrome. This may be related to inadequate T-cell function, decreased levels of immunoglobulin or reduced antibody function.
DiGeorge syndrome and vaccines
The decrease in immune function for many people with DiGeorge syndrome means that vaccination is particularly important to provide protection against vaccine-preventable diseases. However, it is important to recognise that the immune response to vaccines may be suboptimal meaning additional doses of vaccines may be recommended. Conversely, some vaccines (live-attenuated vaccines) may be contraindicated due to the potential risk of vaccine-related disease.
Recommendations
The following guidance outlines recommendations for specific investigations and vaccines for children diagnosed with DiGeorge syndrome. This guidance has been developed as a collaboration between MVEC, Queensland Children’s Hospital, Royal Brisbane and Women’s Hospital and Perth Children’s Hospital.
Immunological work-up and vaccination recommendations for children with 22q11 microdeletion (PDF)
Resources
Authors: Angela Berkhout (Paediatric Infectious Diseases Physician & General Paediatrician, Children’s Health Queensland), Peter McNaughton (Paediatric Allergy and Immunologist, Children’s Health Queensland), Nigel Crawford (Directos, MVEC and SAEFVIC, Murdoch Children’s Research Institute), Anita Campbell (Paediatric Infectious Diseases Physician, Perth Children’s Hospital), Michael Nissen (Infectious Diseases, Microbiology and Paediatric Consultant, Royal Brisbane and Women’s Hospital), Natasha Moseley (Paediatric Allergy and Immunologist, Perth Children’s Hospital), Vinita Prasad (Developmental Paediatrician, Children’s Health Queensland) and Sophie Wen (Paediatric Infectious Diseases Specialist, Children’s Health Queensland)
Date: December 2023
Materials in this section are updated as new information and vaccines become available. The Melbourne Vaccine Education Centre (MVEC) staff regularly reviews materials for accuracy.
You should not consider the information on this site to be specific, professional medical advice for your personal health or for your family’s personal health. For medical concerns, including decisions about vaccinations, medications and other treatments, you should always consult a healthcare professional.