Abstract
We report a 7-year-old girl with 22q13 deletion syndrome, 46,XX,Ish del(22)(q13.3)(ARSA-; D22S1726), who developed a fulminant autoimmune hepatitis requiring orthotopic liver transplantation. Recently, it has been suggested that the Shank3 gene product, whose deficiency is responsible for the features observed in this syndrome, could play a role in immunological response. Despite an increased incidence of respiratory infections, autoimmune diseases have thus far not been reported in patients with this syndrome. This is the first case of fulminant autoimmune hepatitis associated with the 22q13 deletion syndrome. The possible relationships between immune system dysfunctions peculiar of this syndrome and autoimmune hepatitis are discussed.
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Abbreviations
- AIH:
-
Autoimmune hepatitis
- LKM1:
-
Anti-liver/kidney microsomal antibody type 1
- OLT:
-
Orthotopic liver transplantation
- ANA:
-
Anti-nuclear antibody
- SMA:
-
Anti-smooth muscle antibody
- SLA/LP:
-
Anti-soluble liver antigen/liver pancreas antibody
- MHC:
-
Major histocompatibility complex
- SNPs:
-
Single nucleotide polymorphisms
References
Alvarez F, Berg PA, Bianchi FB, Bianchi L, Burroughs AK, Cancado EL, Chapman RW, Cooksley WG, Czaja AJ, Desmet VJ, Donaldson PT, Eddleston AL, Fainboim L, Heathcote J, Homberg JC, Hoofnagle JH, Kakumu S, Krawitt EL, Mackay IR, MacSween RN, Maddrey WC, Manns MP, McFarlane IG, Meyer zum Büschenfelde KH, Zeniya M (1999) International autoimmune hepatitis group report: review of criteria for diagnosis of autoimmune hepatitis. J Hepatol 31:929–938
Baker A, Alonso ME, Aw MM, Ciocca M, Porta G, Rosenthal P (2004) Hepatic failure and liver transplant: working group report of the second world congress of pediatric gastroenterology, hepatology, and nutrition. J Pediatr Gastroenterol Nutr 39(Suppl 2):S632–S639
Czaja AJ, Freese DK (2002) Diagnosis and treatment of autoimmune hepatitis. Hepatology 36:479–497
Havens JM, Visootsak J, Phelan MC, Graham JM Jr (2004) 22q13 deletion syndrome: an update and review for the primary paediatrician. Clin Pediatr 43:43–53
Longhi MS, Ma Y, Bogdanos DP, Cheeseman P, Mieli-Vergani G, Vergani D (2004) Impairment of CD4+CD25+ regulatory T-cells in autoimmune liver disease. J Hepatol 41:31–37
Maggi E, Cosmi L, Liotta F, Romagnani P, Romagnani S, Annunziato F (2005) Thymic regulatory T cells. Autoimmun Rev 4:579–586
Manns MP, Vogel A (2006) Autoimmune hepatitis, from mechanisms to therapy. Hepatology 43(Suppl 1):132–144
Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, Mc Dermid H, Shaw SR, Claytor J, Willis J, Kelly DP (2001) 22q13 deletion syndrome. Am J Med Genet 101:91–99
Redecker P, Bockmann J, Böckers TM (2006) Expression of postsynaptic density proteins of the ProSAP/Shank family in the thymus. Histochem Cell Biol 126:679–685
Sasaki N, Yamauchi K, Sato R, Masuda T, Sawai T, Inoue H (2006) Klinefelter’s syndrome associated with systemic lupus erythematosus and autoimmune hepatitis. Mod Rheumatol 16:305–308
Vergani D, Mieli-Vergani G (2004) Mechanisms of autoimmune hepatitis. Pediatr Transplantation 8:589–593
Acknowledgement
We thank Dr. M. Macrì and Dr. C. Fusco, Department of Immunohematology, A. Cardarelli Hospital, Naples, Italy for their technical assistance.
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Tufano, M., Della Corte, C., Cirillo, F. et al. Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association. Eur J Pediatr 168, 225–227 (2009). https://doi.org/10.1007/s00431-008-0732-z
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DOI: https://doi.org/10.1007/s00431-008-0732-z