Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome

Scandinavian Journal of Gastroenterology

Volumn 49, Issue 3, 2014, Pages 274-279

  Giardino, Giuliana ^a   Cirillo, Emilia ^a   Maio, Filomena ^a   Gallo, Vera ^a   Esposito, Tiziana ^a   Naddei, Roberta ^a   Grasso, Fiorentino ^a   Pignata, Claudio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Celiac disease; Del22 syndrome; Malabsorption

Indexed keywords

ADOLESCENT; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DIGEORGE SYNDROME; FEMALE; GASTROINTESTINAL DISEASES; HUMANS; INFANT; MALE; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84894179457     PISSN: 00365521     EISSN: 15027708     Source Type: Journal    
DOI: 10.3109/00365521.2013.855814     Document Type: Article

References (19)

1. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 2007;370:1443-52.
2. Perez E, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr 2002;14:678-83.
3. McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999;10:11-24.
4. Rommel N, Vantrappen G, Swillen A, Devriendt K, Feenstra L, Fryns JP. Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. Genet Couns 1999;10:71-8.
5. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34:798-804.
6. Pignata C, Fiore M, Guzzetta V, Castaldo A, Sebastio G, Porta F, et al. Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. Am J Med Genet 1996;65:167-70.
7. Pignata C, Gaetaniello L, Masci AM, Frank J, Christiano A, Matrecano E, et al. Human equivalent of the mouse nude/SCID phenotype: Long-term evaluation of immunological reconstitution after bone marrow transplantation. Blood 2001;97:880-5.
8. Digilio MC, Marino B, Cappa M, Cambiaso P, Giannotti A, Dallapiccola B. Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome). Genet Med 2001;3:30-3.
9. Catassi C, Fabiani E, Rštsch IM, Coppa GV, Giorgi PL, Pierdomenico R, et al. The coeliac iceberg in Italy. A multicentre antigliadin antibodies screening for coeliac disease in school-age subjects. Acta Paediatr Suppl 1996;412:29-35.
10. Catassi C, Rštsch IM, Fabiani E, Rossini M, Bordicchia F, Candela F, et al. Coeliac disease in the year 2000: exploring the iceberg. Lancet 1994;343:200-3.
11. Ruuskanen A, Kaukinen K, Collin P, Huhtala H, Valve R, Mški M, et al. Positive serum antigliadin antibodies without celiac disease in the elderly population: does it matter? Scand J Gastroenterol 2010;45:1197-202.
12. Troncone R, Ferguson A. Anti-gliadin antibodies. J Pediatr Gastroenterol Nutr 1991;12:150-8.
13. Bonamico M, Rasore-Quartino A, Mariani P, Scartezzini P, Cerruti P, Tozzi MC, et al. Down syndrome and coeliac disease: usefulness of antigliadin and antiendomysium antibodies. Acta Pediatr 1996;85:1503-5.
14. Carlsson A, Axelsson I, Borulf S, Bredberg A, Forslund M, Lindberg B, et al. Prevalence of IgA-antigliadin antibodies and IgA-antiendomysium antibodies related to celiac disease in children with Down syndrome. Pediatrics 1998;101:272-5.
15. Wolters VM, Alizadeh BZ, Weijerman ME, Zhernakova A, Van Hoogstraten IM, Mearin ML, et al. Intestinal barrier gene variants may not explain the increased levels of antigliadin antibodies, suggesting other mechanisms than altered permeability. Hum Immunol 2010;71:392-6.
16. Pignata C, Troncone R, Monaco G, Ciriaco M, Farris E, Carminati G, et al. Impaired suppressor activity in children affected by coeliac disease. Gut 1985;26:285-90.
17. Digilio MC, Giannotti A, Castro M, Colistro F, Ferretti F, Marino B, et al. Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome). Am J Med Genet A 2003;121A: 286-8.
18. Gennery AR. Immunological aspects of 22q11.2 deletion syndrome. Cell Mol Life Sci 2012;69:17-27.
19. Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, et al. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet 2003;63:308-13.