Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts

American Journal of Medical Genetics, Part A

Volumn 170, Issue 6, 2016, Pages 1630-1634

  Sullivan, Kathleen E ^a   Burrows, Evanette ^a   Mcdonald Mcginn, Donna M ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Cost; DiGeorge syndrome; Immune deficiency; Velocardiofacial syndrome

Indexed keywords

ADOLESCENT; AGE DISTRIBUTION; ANTIBIOTIC THERAPY; ARTICLE; CD3+ T LYMPHOCYTE; CHILD; CHROMOSOME DELETION 22Q11; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; DATA EXTRACTION; DISEASE ASSOCIATION; FEMALE; HEALTH CARE COST; HEALTH CARE UTILIZATION; HEART DISEASE; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INFANCY; LIFETIME COSTS PER INDIVIDUAL; LYMPHOCYTE COUNT; MAJOR CLINICAL STUDY; MALE; OUTPATIENT; PATIENT IDENTIFICATION; PHENOTYPE; PRESCHOOL CHILD; PRESCRIPTION; PRIORITY JOURNAL; T LYMPHOCYTE; BLOOD; DIGEORGE SYNDROME; GENETICS; HEART DEFECTS, CONGENITAL; IMMUNOLOGY; INFANT; LYMPHOCYTOPENIA; OUTPATIENT DEPARTMENT; PATIENT ATTITUDE; YOUNG ADULT;

ADOLESCENT; AMBULATORY CARE FACILITIES; CHILD; CHILD, PRESCHOOL; DIGEORGE SYNDROME; FEMALE; HEALTH CARE COSTS; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; LYMPHOCYTE COUNT; LYMPHOPENIA; MALE; PATIENT ACCEPTANCE OF HEALTH CARE; YOUNG ADULT;

EID: 84963894106     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37648     Document Type: Article

References (24)

1. Bjork AH, Oskarsdottir S, Andersson BA, Friman V. 2012. Antibody deficiency in adults with 22q11.2 deletion syndrome. Am J Med Genet A 158A:1934-1940.
2. Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J. 1993. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 30:822-824.
3. Cancrini C, Puliafito P, Digilio MC, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EM, Cardinale F, Finocchi A, Romiti ML, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MC, Marino B, Ugazio AG, Plebani A, Rossi P, Italian Network for Primary I. 2014. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 164:1475-1480 e1472.
4. CDC. 2011. National Health Statistics Report.
5. Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K. 1998. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 35:789-790.
6. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS. 1993. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis. J Med Genet 30:813-817.
7. Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS. 1993. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 30:807-812.
8. Goodship J, Cross I, LiLing J, Wren C. 1998. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 79:348-351.
9. Herwadkar A, Gennery AR, Moran AS, Haeney MR, Arkwright PD. 2010. Association between hypoparathyroidism and defective T cell immunity in 22q11.2 deletion syndrome. J Clin Pathol 63:151-155.
10. Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett HH. 1982. The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J Pediatr 101:197-200.
11. Looman WS, Thurmes AK, O'Conner-Von SK. 2010. Quality of life among children with velocardiofacial syndrome. Cleft Palate Craniofac J 47:273-283.
12. Matsuoka R, Kimura M, Scambler PJ, Morrow BE, Imamura S, Minoshima S, Shimizu N, Yamagishi H, Joh-o K, Watanabe S, Oyama K, Saji T, Ando M, Takao A, Momma K. 1998. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet 103:70-80.
13. McDonald R, Dodgen A, Goyal S, Gossett JM, Shinkawa T, Uppu SC, Blanco C, Garcia X, Bhutta AT, Imamura M, Gupta P. 2013. Impact of 22q11.2 deletion on the postoperative course of children after cardiac surgery. Pediatr Cardiol 34:341-347.
14. McDonald-McGinn D, Driscoll D, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J, Paris Y, Weinberg P, Clark BJ, Emanuel BS, Zackai EH. 1995. Autosomal dominant "Opitz" GBBB due to a 22q11.2 deletion. Am J Med Genet 59:103-113.
15. McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH. 1999. The Philadelphia story: The 22q11.2 deletion: Report on 250 patients. Genet Couns 10:11-24.
16. McDonald-McGinn DM, Zackai EH, Low D. 1997. What's in a name? The 22q11.2 deletion. A J Med Genet 72:247-249.
17. McLean-Tooke A, Barge D, Spickett GP, Gennery AR. 2008. Immunologic defects in 22q11.2 deletion syndrome. J Allergy Clin Immunol 122:362-367, 367 e361-364.
18. McLean-Tooke A, Spickett GP, Gennery AR. 2007. Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome. Scand J Immunol 66:1-7.
19. Oskarsdottir S, Vujic M, Fasth A. 2004. Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden. Arch Dis Child 89:148-151.
20. Piliero LM, Sanford AN, McDonald-McGinn DM, Zackai EH, Sullivan KE. 2004. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood 103:1020-1025.
21. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielson K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study. J Med Genet 34:798-804.
22. Sullivan KE, McDonald-McGinn D, Driscoll DA, Emanuel BS, Zackai EH, Jawad AF. 1999. Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol 6:906-911.
23. Tezenas Du Montcel S, Mendizabai H, Ayme S, Levy A, Philip N. 1996. Prevalence of 22q11 microdeletion. J Med Genet 33:719.
24. Zemble R, Luning Prak E, McDonald K, McDonald-McGinn D, Zackai E, Sullivan K. 2010. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol 136:409-418.