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

• Published in: Journal of clinical immunology Vol. 43; no. 2; pp. 247 - 270
• Main Authors: Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, Markert, M. Louise
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.02.2023; Springer Nature B.V
• Subjects: abnormal development; Biomedical and Life Sciences; Biomedicine; CHARGE Syndrome; Chromosome 22; Chromosome Deletion; Chromosomes; Clinical medicine; Clinical practice guidelines; Deafness; Defects; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - genetics; DiGeorge Syndrome - therapy; ears; growth retardation; guidelines; Heart; Heart Defects, Congenital - genetics; How I Manage; Humans; Hypoplasia; Immune response; Immune status; Immunology; Infectious Diseases; Internal Medicine; Kinases; Laboratories; Lymphocytes; Medical Microbiology; Pediatrics; T cell receptors; Terminology; Thymic hypoplasia; Thymus; Thymus gland; Vaccines; CHARGE syndrome; DiGeorge syndrome; Immunology guidelines; 22q11.2 deletion; Defects in thymic development; Thymic implant
• ISSN: 0271-9142; 1573-2592; 1573-2592
• DOI: 10.1007/s10875-022-01418-y

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.