1. Cortés-Martín J, Peñuela NL, Sánchez-García JC, et al. (2022): Deletion syndrome 22q11.2: A systematic Review. Children 9: 1168.
2.
Grinde D, Øverland T, Lima K, et al. (2020): Complement activation in 22q11.2 deletion syndrome. J Clin Immunol 40: 515-523.
3.
Mcdonald-Mcginn DM, Sullivan KE, Marino B, et al. (2015): 22q11.2 deletion syndrome. Nat Rev Dis Primers 1: 15071.
4.
Cirillo A, Lioncino M, Maratea A, et al. (2022): Clinical manifestations of 22q11.2 deletion syndrome. Heart Fail Clin 18: 155-164.
5.
Crowley B, Ruffner M, Mcdonald Mcginn DM, Sullivan KE (2018): Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. Am J Med Genet A 176: 2082-2086.
6.
Piliero LM, Sanford AN, Mcdonald-Mcginn DM, et al. (2004): T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood 103: 1020-1025.
7.
Gu H, Mou W, Chen Z, et al. (2022): Case report: Effectiveness of sirolimus in treating partial DiGeorge syndrome with autoimmune lymphoproliferative syndrome (ALPS)-like features. Front Pediatr 10: 1014249.
8.
Legitimo A, Bertini V, Costagliola G, et al. (2020): Vitamin D status and the immune assessment in 22q11.2 deletion syndrome. Clin Exp Immunol 200: 272-286.
9.
Tison BE, Nicholas SK, Abramson SL, et al. (2011): Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. J Allergy Clin Immunol 128: 1115.e1-1117.e3.
10.
Jawad AF, Mcdonald-Mcginn DM, Zackai E, Sullivan KE (2001): Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr 139: 715-723.
11.
Cancrini C, Puliafito P, Digilio MC, et al. (2014): Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 164: 1475-1480.e1472.
12.
Di Cesare S, Puliafito P, Ariganello P, et al. (2015): Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients. Pediatr Allergy Immunol 26: 591-594.
13.
Montin D, Marolda A, Licciardi F, et al. (2019): Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 deletion syndrome. J Allergy Clin Immunol Pract 7: 2369-2376.
14.
Wahrmann S, Kainulainen L, Kytö V, Lempainen J (2023): Childhood manifestations of 22q11.2 deletion syndrome: A Finnish nationwide register-based cohort study. Acta Paediatr 112: 1312-1318.
15.
Mclean-Tooke A, Spickett GP, Gennery AR (2007): Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome. Scand J Immunol 66: 1-7.
16.
Vergaelen E, Schiweck C, Van Steeland K, et al. (2018): A pilot study on immuno-psychiatry in the 22q11.2 deletion syndrome: A role for Th17 cells in psychosis? Brain Behav Immun 70: 88-95.
17.
Amaya-Uribe L, Rojas M, Azizi G, et al. (2019): Primary immunodeficiency and autoimmunity: A comprehensive review. J Autoimmun 99: 52-72.
18.
Lin I, Afshar Y, Goldstein J, et al. (2021): Central 22q11.2 deletion (LCR22 B-D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome. Am J Med Genet A 185: 3042-3047.
19.
Gennery AR, Barge D, O’sullivan JJ, et al. (2002): Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child 86: 422-425.
20.
Ricci S, Sarli WM, Lodi L, et al. (2022): Characterization of autoimmune thyroid disease in a cohort of 73 paediatric patients affected by 22q11.2 deletion syndrome: Longitudinal single-centre study. Genes 13: 1552.
21.
Sullivan KE, Mcdonald-Mcginn DM, Driscoll DA, et al. (1997): Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum 40: 430-436.
22.
Crowley TB, Campbell IM, Liebling EJ, et al. (2022): Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases. J Allergy Clin Immunol 149: 445-450.
23.
Deshpande DR, Demirdag YY, Marsh RA, et al. (2021): 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 41: 29-37.
24.
Burnside RD (2015): 22q11.21 deletion syndromes: A review of proximal, central, and distal deletions and their associated features. Cytogenet Genome Res 146: 89-99.
25.
Weinzimer SA (2001): Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med 3: 19-22.
26.
Lin HY, Tsai WY, Tung YC, et al. (2022): Endocrine and growth disorders in Taiwanese children with 22q11.2 deletion syndrome. Front Endocrinol 13: 771100.
27.
Ryan AK, Goodship JA, Wilson DI, et al. (1997): Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34: 798-804.
28.
Voll SL, Boot E, Butcher NJ, et al. (2017): Obesity in adults with 22q11.2 deletion syndrome. Genet Med 19: 204-208.
29.
Soubry E, David K, Swillen A, et al. (2024): Endocrine manifestations in adults with 22q11.2 deletion syndrome: a retrospective single-center cohort study. J Endocrinol Invest 47: 1827-1836.
30.
Van L, Heung T, Malecki SL, et al. (2020): 22q11.2 microdeletion and increased risk for type 2 diabetes. EClinicalMedicine 26: 100528.
31.
Unolt M, Kammoun M, Nowakowska B, et al. (2020): Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition. Genet Med 22: 326-335.
32.
Unolt M, Dicairano L, Schlechtweg K, et al. (2017): Congenital diaphragmatic hernia in 22q11.2 deletion syndrome. Am J Med Genet A 173: 135-142.
33.
Rosa RF, Pilla CB, Pereira VL, et al. (2008): 22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil. Am J Med Genet A 146a: 1655-1661.
34.
Mcdonald-Mcginn DM, Hain HS, Emanuel BS, Zackai EH (1993): 22q11.2 deletion syndrome. In: GeneReviews®. Adam MP, Feldman J, Mirzaa GM, et al. (Eds.). University of Washington. Seattle, WA. NBK1523.
35.
Tzouvelekis A, Zacharis G, Oikonomou A, et al. (2013): Increased incidence of autoimmune markers in patients with combined pulmonary fibrosis and emphysema. BMC Pulm Med 13: 31.
36.
Tang SX, Yi JJ, Calkins ME, et al. (2014): Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated. Psychol Med 44: 1267-1277.
37.
Schneider M, Debbané M, Bassett AS, et al. (2014): Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 deletion syndrome. Am J Psychiatry 171: 627-639.
