Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pulmonary and Respiratory Medicine,Immunology and Allergy,Immunology
Link
https://link.springer.com/content/pdf/10.1007/s11882-023-01071-4.pdf
Reference68 articles.
1. DiGeorge AM, editor. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypothyroidism. Birth defects. Vol IV(1). White Plains, New York: March of Dimes-Birth Defects Foundation, 1968.
2. Davies EG. Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia. Front Immunol. 2013;4:322. https://doi.org/10.3389/fimmu.2013.00322.
3. •• Mustillo PJ, Sullivan KE, Chinn IK, et al. Clinical practice guidelines for the immunological management of chromosome 22q11.2 deletion syndrome and other defects in thymic development. J Clin Immunol. 2023;43(2):247–70. https://doi.org/10.1007/s10875-022-01418-y. This recent article provides guidelines for initial and longitudinal assessment of immunologic status in 22q11.2DS. The article also reviews the common immunologic findings in 22q11.2DS and the genetic and non-genetic causes of DGS.
4. Shearer WT, Rosenblatt HM, Gelman RS, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol. 2003;112(5):973–80. https://doi.org/10.1016/j.jaci.2003.07.003.
5. Driscoll DA, Salvin J, Sellinger B, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet. 1993;30(10):813–7. https://doi.org/10.1136/jmg.30.10.813.
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