Sullivan KE. Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Immunol Rev. 2019;287:186–201. https://doi.org/10.1111/imr.12701.
Article CAS PubMed Google Scholar
Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, et al. 22q11.2 Deletion Syndrome in Diverse Populations. Am J Med Genet A. 2017;173:879–88. https://doi.org/10.1002/ajmg.a.38199.
Article CAS PubMed PubMed Central Google Scholar
Repetto GM, Guzmán ML, Puga A, Calderón JF, Astete CP, Aracena M, et al. Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients. Clin Genet. 2009;76:465–70. https://doi.org/10.1111/j.1399-0004.2009.01234.x.
Article CAS PubMed Google Scholar
Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, et al. Pediatric AIDS Clinical Trials Group, 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;112:973–80. https://doi.org/10.1016/j.jaci.2003.07.003.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, et al. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023;25:100338. https://doi.org/10.1016/j.gim.2022.11.006.
Article CAS PubMed Google Scholar
Giardino G, Radwan N, Koletsi P, Morrogh DM, Adams S, Ip W, Worth A, et al. Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center. Blood. 2019;133:2586–96. https://doi.org/10.1182/blood.2018885244.
Article CAS PubMed Google Scholar
Goldmuntz E. 22q11.2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020;184:64–72. https://doi.org/10.1002/ajmg.c.31774.
Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112:101–7. https://doi.org/10.1542/peds.112.1.101.
Cheung ENM, George SR, Costain GA, Andrade DM, Chow EWC, Silversides CK, et al. Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome. Clin Endocrinol (Oxf). 2014;81:190–6. https://doi.org/10.1111/cen.12466.
Article CAS PubMed Google Scholar
O’Byrne ML, Yang W, Mercer-Rosa L, Parnell AS, Oster ME, Levenbrown Y, Tanel RE, et al. 22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch. J Thorac Cardiovasc Surg. 2014;148:1597–605. https://doi.org/10.1016/j.jtcvs.2014.02.011.
Article CAS PubMed PubMed Central Google Scholar
Cuturilo G, Drakulic D, Jovanovic I, Ilic S, Kalanj J, Vulicevic I, et al. The impact of 22q11.2 microdeletion on cardiac surgery postoperative outcome. Pediatr Cardiol. 2017;38:1680–5. https://doi.org/10.1007/s00246-017-1713-7.
Jackson O, Crowley TB, Sharkus R, Smith R, Jeong S, Solot C, et al. Palatal evaluation and treatment in 22q11.2 deletion syndrome. Am J Med Genet A. 2019;179:1184–95. https://doi.org/10.1002/ajmg.a.61152.
Article CAS PubMed Google Scholar
Morsheimer M, Brown Whitehorn TF, Heimall J, Sullivan KE. The immune deficiency of chromosome 22q11.2 deletion syndrome. Am J Med Genet A. 2017;173:2366–72. https://doi.org/10.1002/ajmg.a.38319.
Article CAS PubMed Google Scholar
Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, et al. What is new with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia. Am J Med Genet A. 2018;176:2058–69. https://doi.org/10.1002/ajmg.a.40637.
Article CAS PubMed PubMed Central Google Scholar
Jawad AF, McDonald-Mcginn DM, Zackai E, Sullivan KE. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001;139:715–23. https://doi.org/10.1067/mpd.2001.118534.
Article CAS PubMed Google Scholar
Kreins AY, Dhalla F, Flinn AM, Howley E, Ekwall O, Villa A, et al. European society for immunodeficiencies guidelines for the management of patients with congenital athymia. J Allergy Clin Immunol. 2024;154:1391–408. https://doi.org/10.1016/j.jaci.2024.07.031.
Gennery AR, Barge D, O’Sullivan JJ, Flood TJ, Abinun M, Cant AJ. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child. 2002;86:422–5. https://doi.org/10.1136/adc.86.6.422.
Article CAS PubMed PubMed Central Google Scholar
Derfalvi B, Maurer K, McDonald McGinn DM, Zackai E, Meng W, Luning Prak ET, et al. B cell development in chromosome 22q11.2 deletion syndrome. Clin Immunol Orlando Fla. 2016;163:1–9. https://doi.org/10.1016/j.clim.2015.12.004.
Perez EE, Bokszczanin A, McDonald-McGinn D, Zackai EH, Sullivan KE. Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Pediatrics. 2003;112: e325. https://doi.org/10.1542/peds.112.4.e325.
Berkhout A, Preece K, Varghese V, Prasad V, Heussler H, Clark J, et al. Optimising immunisation in children with 22q11 microdeletion. Ther Adv Vaccines Immunother. 2020;8: 2515135520957139. https://doi.org/10.1177/2515135520957139.
Article PubMed PubMed Central Google Scholar
Moylett EH, Wasan AN, Noroski LM, Shearer WT. Live viral vaccines in patients with partial DiGeorge syndrome: clinical experience and cellular immunity. Clin Immunol Orlando Fla. 2004;112:106–12. https://doi.org/10.1016/j.clim.2004.02.008.
Lawrence S, McDonald-McGinn DM, Zackai E, Sullivan KE. Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. J Pediatr. 2003;143:277–8. https://doi.org/10.1067/S0022-3476(03)00248-8.
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