Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome)

被引:30
作者
Kuo, Caroline Y. [1 ]
Signer, Rebecca [2 ]
Saitta, Sulagna C. [3 ,4 ]
机构
[1] Univ Calif Los Angeles, Mattel Childrens Hosp, Sch Med, Dept Pediat,Div Allergy & Immunol & Rheumatol, Los Angeles, CA USA
[2] Univ Calif Los Angeles, Mattel Childrens Hosp, Sch Med, Dept Pediat,Div Med Genet, Los Angeles, CA USA
[3] USC, Childrens Hosp Los Angeles, Keck Sch Med, Dept Pathol,Div Genom Med, 4650 Sunset Blvd, Los Angeles, CA 90027 USA
[4] Childrens Hosp Los Angeles, Ctr Personalized Med, Los Angeles, CA 90027 USA
关键词
DiGeorge syndrome; Chromosome; 22q11; deletion; Thymic dysfunction; TREC assay; THYMUS TRANSPLANTATION; PREVALENCE; DEFICIENCY; CHILDREN;
D O I
10.1007/s11882-018-0823-5
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
Purpose of ReviewThis review provides an update on the progress in identifying the range of immunological dysfunction seen in DiGeorge syndrome and on more recent diagnostic and treatment approaches.Recent FindingsClinically, the associated thymic hypoplasia/aplasia is well known and can have profound effects on T cell function. Further, the humoral arm of the immune system can be affected, with hypogammaglobulinemia and poor vaccine-specific antibody response. Additionally, genetic testing utilizing chromosomal microarray demonstrates a small but significant number of 22q11 deletions that are not detectable by standard FISH testing. The recent addition of a TREC assay to newborn screening can identify a subset of infants whose severe immune defects may result from 22q11 deletion. This initial presentation now also places the immunologist in the role of first responder with regard to diagnosis and management of these patients.SummaryDiGeorge syndrome reflects a clinical phenotype now recognized by its underlying genetic diagnosis, chromosome 22q11.2 deletion syndrome, which is associated with multisystem involvement and variable immune defects among patients. Updated genetic and molecular techniques now allow for earlier identification of immune defects and confirmatory diagnoses, in this disorder with life-long clinical issues.
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页数:7
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