Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome;Doença de graves e deficiência de iga como manifestações da síndrome de deleção 22q11.2

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 54, Issue 6, 2010, Pages 572-577

  Silva, Joäo Miguel de Almeida ^a   Silva, Ceciälia Pereira ^b   de Melo, Flavio Fernando Nogueira ^c   Silva, Luis Alberto A ^d   Utagawa, Claudia Yamada ^e  

^a Centro Universitário de Volta Redonda UniFOA   (Brazil)

^b UniFOA   (Brazil)

^c Curso de Medicina   (Brazil)

^d CTI Pediátrico do Hospital Vita   (Brazil)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77957714876     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/s0004-27302010000600011     Document Type: Article

References (38)

1. Yamagishi H. The 22q11.2 deletion syndrome. Keio J Med. 2002;51 (2):77-88.
2. Sullivan KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/ velocardiofacial syndrome. Immunol Allergy Clin North Amer. 2008;28:353-366.
3. Rosa RFM, Zen PRG, Roman T, Graziadio C, Paskulin GA. Síndrome de deleção 22q11.2: compreendendo o CATCH22. Rev Paul Pediatr. 2009;27(2):211-220.
4. Moreno-Izco F. Síndrome de deleción 22q11: un fenotipo en expansión. Neurología. 2009;24(1):69-71.
5. Brown JJ, Datta V, Browning MJ, Swift PG. Graves' disease in DiGeorge syndrome: patient report with a review of endocrine autoimmunity associated with 22q11.2 deletion. J Pediatr Endocrinol Metab. 2004;17(11):1575-1579.
6. Weinzimer AS. Endocrine aspects os 22q11.2 deletion syndrome. Genet Med. 2001:19-22.
7. Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Moshang T Jr. Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype. Pediatrics. 1998;101:929-932.
8. Brauner R, Le Harivel de Gonneville A, Kindermans C, Le Bidois J, Prieur M, Lyonnet S, et al. Parathyroid function and growth in 22q11.2 deletion syndrome. J Pediatr. 2003;142:504-508.
9. Taylor SC, Morris G, Wilson D, Davies SJ, Gregory JW. Hypoparathyroidism and 22q11 deletion syndrome. Arch Dis Child. 2003;88:520-522.
10. Adachi M, Tachibana K, Masuno M, Makita Y, Maesaka H, Okada T, et al. Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. Eur J Pediatr. 1998;157:34-38.
11. Bruno B, Barbier C, Lambilliotte A, Rey C, Turck D. Auto-immune pancytopenia in a child with DiGeorge syndrome. Eu J Pediatr. 2002;161:390-392.
12. Davies K, Stiehm ER, Woo P, Murray KJ. Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome. J Rheumatol. 2001;28:2326-2334.
13. Horenstein MS, Forbes TJ, Ardinger R, Ardinger H. Velocardiofacial syndrome. Emedicine [Internet] 2009 [acesso em: 2010 jan 29]. Disponível em: http://www.emedicine.com/ped/topic2395.htm
14. Wilson DI, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993;30:852-856.
15. Bassett AS, Hodgkinson K, Chow EW, Correia S, Scutt LE, Weksberg R. 22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet. 1998;81:328-337.
16. Stevens CA, Wilroy RS. The telecanthus-hypospadias syndrome. J Med Genet. 1988;8:536-542.
17. de Almeida JR, James AL, Papsin BC, Weksburg R, Clark H, Blaser S. Thyroid gland and carotid artery anomalies in 22q11.2 deletion syndromes. Laryngoscope. 2009;119(8):1495-1500.
18. Pereira AC, Corrêa RFR, Mota GF, Kim CA, Mesquita SF, Krieger JE. High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups. Braz J Med Biol Res. 2003;36(10):1359-1365.
19. Kariyazono H, Ohno T, Ihara K, Igarashi H, Joh-o K, Ishikawa S, et al. Rapid detection of the 22q11.2 deletion with quantitative realtime PCR. Mol Cell Probes. 2001;15:71-73.
20. Smith CA. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (Di-George syndrome/Velocardiofacial syndrome). Clin Diagnosis Lab Immunol. 1998;5(3):415-417.
21. Rúpolo BS, Mira JGS, Junior OK. Deficiência de IgA-Artigo de revisão. J Pediatr (Rio J). 1998;74(6):433-440.
22. Jesus AA. Associação de imunodeficiências primárias com doenças auto-imunes na infância. Rev Bras Reumatol. 2007;47(6):418-423.
23. Grumach AS, Jacob CMA, Pastoriano AC. Deficiência de IgA: avaliação clínico-laboratorial de 60 pacientes do Instituto da Criança. Rev Ass Med Brasil. 1998;44(4):277-282.
24. Mano T, Kawakubo A, Yamamoto M. Isolated IgA deficiency accompanied by autoimmune thyroid disease. Intern Med. 1992;10:1201-1203.
25. Ham Pong AJ, Cavallo A, Holman GH, Goldman AS. DiGeorge syndrome: long-term survival complicated by Graves disease. J Pediatr. 1985;106:61920.
26. Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleason MM, et al. Graves' disease in patients with 22q11.2 deletion. J Pediatr. 2001;139:892-895.
27. Kawamura T, Nimura I, Hanafusa M, Fujikawa R, Okubo M, Egusa G, et al. DiGeorge syndrome with Graves' disease: a case report. Endocr J. 2000;47:91-95.
28. Segni M, Zimmerman D. Autoimmune hyperthyroidism in two adolescents with DiGeorge/velocardiofacial syndrome (22q11 deletion). Eur J Pediatr. 2002;161:233-234.
29. Gosselin J. Syndrome de délétion 22q11 et maladie de Basedow. À propos de trois observations pédiatriques. Arch pédiatr 2004;11:1468-1471.
30. Choi JH, Shin YL, Kim GH, Seo EJ, Kim Y, Park IS, Yoo HW. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res. 2005;63(6):294-299.
31. Jawad AF, McDonald-Mcginn DM, Zackai E, Sullivan KE. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001;139:715-723
32. American Thyroid Association. Guidelines for detection of thyroid dysfunction. Arch Intern Med. 2000;160:1573-1575.
33. Etzioni A, Pollack S. Autoimmune phenomena in DiGeorge syndrome. Isr J Med Sci. 1994;30:853.
34. Sgarbi JA, Maciel RMB. Patogênese das doenças tiroidianas. Arq Bras Endocrinol Metab. 2009;53(1):5-14.
35. Berglund J, Christensen SB, Hallengren B. Total and age-specific incidence of Graves thyrotoxicosis, toxic nodular goiter and solitary toxic adenoma in Malmo 1970-74. J Intern Med. 1990;227:137-141.
36. LaFranchi S, Mandell SH. Graves' disease in the neonatal period and childhood. In: Braverman LE, Utiger RD. eds. The thyroid: a fundamental and clinical textbook. JB Lippincott: New York, 6a. ed. 1991. p. 1237-1246.
37. Zimmerman D, Lteif NA. Thyrotoxicosis in children. Endocrinol Metab Clin North Am. 1998;27:109-126.
38. Shulman DI, Muhar I, Jorgensen EV. Autoimmune hyperthyroidism in prepubertal children and adolescents: comparison of clinical and biochemical features at diagnosis and responses to medical therapy. Thyroid. 1997;7:755-760.