References
  1. Montin D, Marolda A, Licciardi F, et al. Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 deletion syndrome. J Allergy Clin Immunol Pract . 2019;7(7):2369-2376. doi:10.1016/j.jaip.2019.03.014
  2. DePiero AD, Lourie EM, Berman BW, Robin NH, Zinn AB, Hostoffer RW. Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome. J Pediatr . 1997;131(3):484-486. doi:10.1016/s0022-3476(97)80085-6
  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):247-270. doi:10.1007/s10875-022-01418-y
  4. Davies JK, Telfer P, Cavenagh JD, Foot N, Neat M. Autoimmune cytopenias in the 22q11.2 deletion syndrome. Clin Lab Haematol . 2003;25(3):195-197. doi:10.1046/j.1365-2257.2003.00508.x
  5. Lambert MP, Arulselvan A, Schott A, et al. The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias. Am J Med Genet A . 2018;176(10):2121-2127. doi:10.1002/ajmg.a.38474
  6. Deshpande DR, Demirdag YY, Marsh RA, Sullivan KE, Orange JS, USIDNET Consortium. Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study. J Clin Immunol . 2021;41(1):29-37. doi:10.1007/s10875-020-00854-y
  7. Giardino G, Radwan N, Koletsi P, et al. Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center. Blood . 2019;133(24):2586-2596. doi:10.1182/blood.2018885244
  8. Saco T, Geier C, Buchbinder D, et al. Are we diagnosing too late? RAG deficiency in young adults with end organ damage. Journal of Allergy and Clinical Immunology . 2021;147(2):AB69. doi:10.1016/j.jaci.2020.12.270