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

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

doi:10.1007/s10875-022-01418-y

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

J Clin Immunol. 2023 Feb;43(2):247-270. doi: 10.1007/s10875-022-01418-y. Epub 2023 Jan 17.

Authors

Peter J Mustillo¹, Kathleen E Sullivan², Ivan K Chinn³, Luigi D Notarangelo⁴, Elie Haddad⁵, E Graham Davies⁶, Maria Teresa de la Morena⁷, Nicholas Hartog⁸, Joyce E Yu⁹, Vivian P Hernandez-Trujillo¹⁰, Winnie Ip¹¹, Jose Franco¹², Eleonora Gambineri^{13

14}, Scott E Hickey¹⁵, Elizabeth Varga¹⁶, M Louise Markert¹⁷

Affiliations

¹ Division of Allergy and Immunology, Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, 43205, USA. peter.mustillo@nationwidechildrens.org.
² Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
³ Division of Immunology, Allergy, and Retrovirology, Department of Pediatrics, Texas Children's Hospital, Houston, TX, 77030, USA.
⁴ National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.
⁵ Department of Pediatrics, Department of Microbiology, Infectious Diseases and Immunology, CHU Sainte-Justine, University of Montreal, Montreal, QC, H3T 1C5, Canada.
⁶ Department of Immunology, Great Ormond Street Hospital and UCL Great Ormond Street Institute of Child Health, London, WC1N 3HJ, UK.
⁷ Division of Immunology, Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, WA, 98105, USA.
⁸ Spectrum Health Helen DeVos Children's Hospital Department of Allergy and Immunology, Michigan State University College of Human Medicine, East Lansing, USA.
⁹ Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
¹⁰ Division of Allergy and Immunology, Department of Pediatrics, Nicklaus Children's Hospital, Miami, FL, USA.
¹¹ Department of Immunology, Great Ormond Street Hospital and UCL Great Ormond Street Institute of Child Health, London, WC1N 3JH, UK.
¹² Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
¹³ Department of "NEUROFARBA", Section of Child's Health, University of Florence, Florence, Italy.
¹⁴ Centre of Excellence, Division of Pediatric Oncology/Hematology, Meyer Children's Hospital IRCCS, Florence, Italy.
¹⁵ Division of Genetic & Genomic Medicine, Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
¹⁶ Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
¹⁷ Department of Immunology, Duke University Medical Center, Durham, NC, 27710, USA.

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.

Keywords: 22q11.2 deletion; CHARGE syndrome; Defects in thymic development; DiGeorge syndrome; Immunology guidelines; Thymic implant.

Publication types

Review

MeSH terms

CHARGE Syndrome*
Chromosome Deletion
Chromosomes
DiGeorge Syndrome* / diagnosis
DiGeorge Syndrome* / genetics
DiGeorge Syndrome* / therapy
Heart Defects, Congenital* / genetics
Humans