Journal of Clinical Immunologyhttps:/doi.org/10.1007/s10875-022-01418-yHOW I MANAGEClinical Practice Guidelines for the Immunological Managementof Chromosome 22q11.2 Deletion Syndrome and Other Defectsin Thymic DevelopmentPeter J.Mustillo'.Kathleen E.Sullivan2.Ivan K.Chinn3.Luigi D.Notarangelo4.Elie Haddad5.E.Graham Davies5.Maria Teresa de la Morena7.Nicholas Hartog8.Joyce E.Yu.Vivian P.Hernandez-Trujillo10.Winnie lp11.Jose Franco2.Eleonora Gambineri14.ScottE.Hickey15.Elizabeth Varga.M.Louise Markert7Received:10 October 2022/Accepted:4 December 2022The Author(s)2023AbstractCurrent practices vary widely regarding the immunological work-up and management of patients affected with defects inthymic development (DTD),which include chromosome 22q11.2 microdeletion syndrome (22q11.2del)and other causesof DiGeorge syndrome (DGS)and coloboma,heart defect,atresia choanae,retardation of growth and development,genitalhypoplasia,ear anomalies/deafness(CHARGE)syndrome.Practice variations affect the initial and subsequent assessment ofimmune function,the terminology used to describe the condition and immune status,the accepted criteria for recommendinglive vaccines,and how often follow-up is needed based on the degree of immune compromise.The lack of consensus andwidely varying practices highlight the need to establish updated immunological clinical practice guidelines.These guidelinerecommendations provide a comprehensive review for immunologists and other clinicians who manage immune aspects ofthis group of disorders.Keywords 22q11.2 deletion.DiGeorge syndrome.Defects in thymic development.CHARGE syndrome.Immunologyguidelines.Thymic implantAbbreviationscTECCortical thymic epithelial cells22q11.2del22Q11.2 deletion syndromeDGSDiGeorge SyndromeAAAAIAmerican Academy of AllergyDNA-PKcsDNA-dependent protein kinaseAsthma and Immunologycatalytic subunitBCG vaccineBacillus Calmette-Guerin vaccineDTDDefect in thymic developmentCCR7C-chemokine receptor 7ESIDEuropean Society forCD31Cluster of differentiation 31ImmunodeficienciesCD62LCluster of differentiation 62FOXI3Forkhead box I3L-selectinFOXNIForkhead box NICHARGE syndromeColoboma,heart defect,atresiaGVHDGraft-versus-host diseasechoanae,retardation of growth andIGRTIgG replacement therapydevelopment,genital hypoplasia,MACMycobacterium avium Complexear anomalies/deafness(28)mTECMedullary thymic epithelial cellsCHD7Chromodomain helicase DNA-NBSNewborn screenbinding protein 7OFCS2Otofaciocervical syndrome type 2CIDCombined immune deficiencyPAXIPaired box 1CMAChromosomal microarrayPJPPneumocystis jirovecii PneumoniaRTERecent thymic emigrantSADSpecific antibody deficiency☒Peter J.MustilloSCIDSevere combined immunepeter.mustillo@nationwidechildrens.orgdeficiencyExtended author information available on the last page of the articleTBTuberculosisPublished online:17 January 2023②Springer
