Graves' disease in DiGeorge syndrome: Patient report with a review of endocrine autoimmunity associated with 22q11.2 deletion

Journal of Pediatric Endocrinology and Metabolism

Volumn 17, Issue 11, 2004, Pages 1575-1579

  Brown, Justin J ^a   Datta, V ^b   Browning, M J ^c   Swift, P G F ^d  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b NORFOLK AND NORWICH HOSPITAL   (United Kingdom)

^c UNIVERSITY OF LEICESTER   (United Kingdom)

^d LEICESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

22q11 deletion; Autoimmune hyperthyroidism; Autoimmunity; DiGeorge syndrome; Graves' disease; Immunodeficiency

Indexed keywords

CALCITRIOL; CALCIUM; CARBIMAZOLE; HAEMOPHILUS INFLUENZAE TYPE B VACCINE; PNEUMOCOCCUS VACCINE; RADIOACTIVE IODINE; THYROXINE;

ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNITY; AWARENESS; CASE REPORT; CATHETER ABLATION; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DIGEORGE SYNDROME; DISEASE ASSOCIATION; FLUORESCENCE IN SITU HYBRIDIZATION; GRAVES DISEASE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN CELL; HYPOCALCEMIA; IMMUNE DEFICIENCY; LYMPHOCYTE COUNT; MALE; PRESCHOOL CHILD; RISK FACTOR; THYROID DISEASE;

EID: 8644287589     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2004.17.11.1575     Document Type: Article

References (25)

1. Hong R. The DiGeorge anomaly. Clin Rev Allergy Immunol 2001; 20: 43-60.
2. Weinzimer SA. Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med 2001; 3: 19-22.
3. Ham Pong AJ, Cavallo A, Holman GH, Goldman AS. DiGeorge syndrome: long term survival complicated by Graves' disease. J Pediatr 1985; 106: 619-620.
4. Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleason MM,. Weinzimer S, Levitt-Katz L, Sullivan K, McDonald-McGinn DM. Graves' disease in patients with 22q11.2 deletion. J Pediatr 2001; 139: 892-895.
5. 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-Nielsen K, Scambler PJ, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997; 34: 798-804.
6. Raza J, Hindmarsh PC, Brook CGD. Thyrotoxicosis in children: thirty years' experience. Acta Paediatr 1999; 88: 937-941.
7. Lazar L, Kalter-Leibovici O, Pertzelan A, Weintrob N, Josefsberg Z, Phillip M. Thyrotoxicosis in prepubertal children compared with pubertal and postpubertal patients. J Clin Endocrinol Metab 2000; 85: 3678-3682.
8. Adachi M, Tachibana K, Masuno M, Makita Y, Maesaka H, Okada T, Hizukuri K, Imaizumi K, Kuroki Y, Kurahashi H, Suwa S. Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. Eur J Pediatr 1998; 157: 34-38.
9. Kawamura T, Nimura I, Hanafusa M, Fujikawa R, Okubo M, Egusa G, Amakido M. DiGeorge syndrome with Graves' disease: a case report. Endocr J 2000; 47: 91-95.
10. Weetman AP. Graves' disease. N Engl J Med 2000; 343: 1236-1248.
11. Pinchas-Hamiel O, Mandel M, Engelberg S, Passwell JH. Immune hemolytic anemia, thrombocytopenia and liver disease in a patient with DiGeorge syndrome. Isr J Med Sci 1994; 30: 530-532.
12. Levy A, Michel G, Lemmerer M, Philip A. Idiopathic thrombocytopenic purpura in 2 mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11? Am J Med Genet 1997; 69: 356-359.
13. Sullivan KE, McDonald-McGinn DM, Driscoll DA, Zmijewski CM, Ellabban AS, Reed L, Emanuel BS, Zackai EH, Athreya BH, Keenan G. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomaly/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum 1997; 40: 430-436.
14. Elder DA, Kaiser-Rogers K, Aylsworth AS, Calikoglu AS. Type 1 diabetes mellitus in a patient with 22q11.2 deletion syndrome. Am J Med Genet 2001; 101: 17-19.
15. Scuccimari R, Rodd C. Thyroid abnormalities as a feature of DiGeorge syndrome: a case report and review of the literature. J Pediatr Endocrinol Metab 1998; 11: 273-276.
16. Preece JM, Smith RA. Thyroid disease in children with 22q11.2 deletion syndrome. J Pediatr 2002; 141: 297.
17. 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: 422-426.
18. Arkwright PD, Abinun M, Cant AJ. Autoimmunity in human primary immunodeficiency diseases. Blood 2002; 99: 2694-2702.
19. Shield JPH, Wadsworth EJK, Hassold TJ, Judis LA, Jacobs PA. Is disomic heterozygosity at the APECED locus the cause of increased autoimmunity in Down's syndrome? Arch Dis Child 1999; 81: 147-150.
20. Candotti F, Notarangelo L, Visconti R, O'Shea J. Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signalling pathways. J Clin Invest 2002; 109: 1261-1269.
21. Driscoll DA, Sullivan KE. DiGeorge syndrome: a chromosome 22q11.2 deletion syndrome. In: Ochs HD, Smith CIE, Puck JM, eds. Primary Immunodeficiency Diseases. Oxford: Oxford University Press, 1999; 198-208.
22. Sullivan KE, McDonald-Mcginn D, Zackai EH. CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia. Clin Diagn Lab Immunol 2002; 9: 1129-1131.
23. Jubault V, Penfornis A, Schillo F, Hoen B, Izembart M, Timsit J, Kazatchkine MD, Gilquin J, Viard JP. Sequential occurrence of thyroid autoantibodies and Graves' disease after immune restoration in severely immunocompromised human immunodeficiency virus-1 infected patients. J Clin Endocrinol Metab 2000; 85: 4254-4257.
24. Gleason PA, Toh BH, van Driel IR. Organ specific autoimmunity induced by lymphopenia. Immunol Rev 1996; 149: 97-125.
25. Sakaguchi S, Sakaguchi N. Organ specific autoimmune disease induced in mice by elimination of T cell subsets. Neonatal administration of cyclosporin A causes autoimmune disease. J Immunol 1989; 142: 47-80.