Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 2, 2013, Pages 704-712

  Scarpa, R ^a   Alaggio, R ^a   Norberto, L ^b   Furmaniak, J ^c   Chen, S ^c   Smith, B Rees ^c,d   Masiero, S ^a   Morlin, L ^a   Plebani, M ^a   De Luca, F ^e   Salerno, M C ^f   Giordano, R ^g   Radetti, G ^h   Ghizzoni, L ⁱ   Tonini, G ^j   Farinati, F ^a   Betterle, C ^a,k  

^a UNIVERSITY OF PADOVA   (Italy)

^b Surgical Endoscopy Unit   (Italy)

^c FIRS Laboratories   (United Kingdom)

^d RSR Limited   (United Kingdom)

^e UNIVERSITY OF MESSINA   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g UNIVERSITY OF TURIN   (Italy)

^h CENTRAL HOSPITAL OF BOLZANO   (Italy)

ⁱ UNIVERSITY OF TURIN   (Italy)

^j UNIVERSITY OF TRIESTE   (Italy)

^k UNIVERSITY HOSPITAL OF PADOVA   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CD20 ANTIGEN; CD3 ANTIGEN; CD4 ANTIGEN; CD8 ANTIGEN; CHROMOGRANIN A; SEROTONIN; TRYPTOPHAN HYDROXYLASE;

ADULT; ANTIBODY RESPONSE; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CELL COUNT; CELL SELECTION; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DUODENUM BIOPSY; ENDOSCOPY; ENTEROCHROMAFFIN CELL; ENTEROENDOCRINE CELL; ENZYME ASSAY; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LYMPHOCYTIC INFILTRATION; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SEROTONIN BLOOD LEVEL;

ADOLESCENT; ADULT; AGED; ANTIGENS, CD; AUTOANTIBODIES; CHILD; ENTEROCHROMAFFIN CELLS; FEMALE; GASTROINTESTINAL TRACT; HUMANS; MALE; MIDDLE AGED; POLYENDOCRINOPATHIES, AUTOIMMUNE; SEROTONIN; TRYPTOPHAN HYDROXYLASE;

EID: 84873635069     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-2734     Document Type: Article

References (42)

1. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, et al. Positional cloning of the APECED gene. Nat Genet. 1997;17: 393-398.
2. The Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet. 1997;17:399-403.
3. Mathis D, Benoist C AIRE. Annu Rev Immunol. 2009;27:287-312.
4. Betterle C, Greggio NA, Volpato M. Autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab. 1998;83:1049-1055.
5. Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2006;91:2843-2850.
6. Husebye ES, Perheentupa J, Rautemaa R, Kämpe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. J Intern Med. 2009;265:514-529.
7. Betterle C, Dal Pra C, Mantero F, Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev. 2002;23:327-364.
8. Hogenauer C, Meyer R, Netto GJ, Bell D, Little KH, Ferries L, et al. Malabsorption due to cholecystokinin deficiency in a patient with autoimmune polyglandular syndrome type I. N Engl J Med. 2001; 344:270-274.
9. Ekwall O, Hedstrand H, Grimelius L, Haavik J, Perheentupa J, Gustafsson J, et al. Identification of tryptophan hydroxylase as an intestinal autoantigen. Lancet. 1998;352:279-283.
10. Dal Pra C, Chen S, Betterle C, Zanchetta R, McGrath V, Furmaniak J, et al. Autoantibodies to human tryptophan hydroxylase and aromatic L-amino acid decarboxylase. Eur J Endocrinol. 2004;150: 313-321.
11. De Luca F, Valenzise M, Alaggio R, Arrigo T, Crisafulli G, Salzano G, et al. Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers. Eur J Pediatr. 2008;167:1283-1288.
12. Gianani R, Eisenbarth GS. Autoimmunity to gastrointestinal endocrine cells in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab. 2003;88:1442-1444.
13. Mirakian R, Locatelli M, Bottazzo F. Disclosure of novel autoantigens in human autoimmunity. Lancet. 1998;352:255-256.
14. Boadle-Biber MC. Regulation of serotonin synthesis. Prog Biophys Mol Biol. 1993;60:1-15.
15. Gershon MD, Tack J. The serotonin signaling system: from basic understanding to drug development for functional GI disorders. Gastroenterology. 2007;132:397-414.
16. Bearcroft CP, Perrett D, Farthing MJG. Postprandial plasma 5-hydroxytryptamine in diarrhoea predominant irritable bowel syndrome: a pilot study. Gut. 1998;42:42-46.
17. Morrissey JJ, Walker MN, Lovenberg W. The absence of tryptophan hydroxylase activity in blood platelets. Proc Soc Exp Biol Med. 1977;154:496-499.
18. Houghton LA, Atkinson W, Whitaker RP, Whorwell PJ, Rimmer MJ. Increased platelet depleted plasma 5-hydroxytryptamine concentration following meal ingestion in symptomatic female subjects with diarrhoea predominant irritable bowel syndrome. Gut. 2003; 52:663-670.
19. Dunlop SP, Coleman NS, Blackshaw PE, Perkins AC, Singh G, Marsden CA, et al. Abnormalities of 5-hydroxytryptamine metabolism in irritable bowel syndrome. Clin Gastroenterol Hepatol. 2005;3:349-357.
20. Atkinson W, Lockhart S, Whorwell PJ, Keevil B, Houghton LA. Altered 5-hydroxytryptamine signaling in patients with constipation- and diarrhea-predominant irritable bowel syndrome. Gastroenterology. 2006;130:34-43.
21. Posovszky C, Lahr G, von Schnurbein J, Buderus S, Findeisen A, Schroder C, et al. Loss of Enteroendocrine cells in autoimmune-polyendocrine-candidiasis- ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction. J Clin Endocrinol Metab. 2012;97:292-300.
22. Dixon MF, Genta RM, Yardley JH, Correa P. Classification and grading of gastritis. The updated Sydney System. International Workshop on the Histopathology of Gastritis, Houston 1994. AmJ Surg Pathol. 1996;20:1161-1181.
23. Kakar S, Nehra V, Murray JA, Dayharsh GA, Burgart LJ. Significance of intraepithelial lymphocytosis in small bowel biopsy samples with normal mucosal architecture. Am J Gastroenterol. 2003; 98:2027-2033.
24. Ohsie S, Gerney G, Gui D, Kahana D, Martín MG, Cortina G. A paucity of colonic enteroendocrine and/or enterochromaffin cells characterizes a subset of patients with chronic unexplained diarrhea/malabsorption. Hum Pathol. 2009;40:1006-1014.
25. Cortina G, Smart CN, Farmer DG, Bhuta S, Treem WR, Hill ID, et al. Enteroendocrine cell dysgenesis and malabsorption, a histopathologic and immunohistochemical characterization. Hum Pathol. 2007;38:570-580.
26. Picard M, Olichon D, Gombert J. Determination of serotonin in plasma by liquid chromatography with electrochemical detection. J Chromatogr. 1985;341:445-451.
27. Cervato S, Mariniello B, Lazzarotto F, Morlin L, Zanchetta R, Radetti G, et al. Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasisectodermal- dystrophy (APECED) and in their relatives. Clin Endocrinol (Oxf). 2009;70:421-428.
28. Sö derbergh A, Myhre AG, Ekwall O, Gebre-Medhin G, Hedstrand H, Landgren E, et al. Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab. 2004;89:557-562.
29. Witebsky E, Rose NR, Terplan K, Paine JR, Egan RW. Chronic thyroiditis and autoimmunization. J Am Med Assoc. 1957;164: 1439-1447.
30. Rose NR, Bona C. Defining criteria for autoimmune diseases (Witebsky's postulates revisited). Immunol Today. 1993;14:426-430.
31. Michels AW, Eisenbarth GS. Immunologic endocrine disorders. J Allergy Clin Immunol. 2010;125(2 suppl 2):S226-S237.
32. Coates MD, Mahoney CR, Linden DR, Sampson JE, Chen J, Blaszyk H, et al. Molecular defects in mucosal serotonin content and decreased serotonin reuptake transporter in ulcerative colitis and irritable bowel syndrome. Gastroenterology. 2004;126:1657-1664.
33. Miwa J, Echizen H, Matsueda K, Umeda N. Patients with constipation-predominant irritable bowel syndrome (IBS) may have elevated serotonin concentrations in colonic mucosa as compared with diarrhea-predominant patients and subjects with normal bowel habits. Digestion. 2001;63:188-194.
34. Magro F, Vieira-Coelho MA, Fraga S, Serrão MP, Veloso FT, Ribeiro T, et al. Impaired synthesis or cellular storage of norepinephrine, dopamine, and 5-hydroxytryptamine in human inflammatory bowel disease. Dig Dis Sci. 2002;47:216-224.
35. Ahonen A, Kyosola K, Penttila O. Enterochromaffin cells in macrophages in ulcerative colitis and irritable colon. Ann Clin Res. 1976;8:1-7.
36. El-Salhy M, Danielsson A, Stenling R, Grimelius L. Colonic endocrine cells in inflammatory bowel disease. J Intern Med. 1997;242: 413-419.
37. Murphy DL, Lerner A, Rudnick G, Lesch KP. Serotonin transporter: gene, genetic disorders, and pharmacogenetics. Mol Interv. 2004; 4:109-123.
38. Yeo A, Boyd P, Lumsden S, Saunders T, Handley A, Stubbins M, et al. Association between a functional polymorphism in the serotonin transporter gene and diarrhoea predominant irritable bowel syndrome in women. Gut. 2004;53:1452-1458.
39. Ward L, Paquette J, Seidman E, Huot C, Alvarez F, Crock P, et al. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy. J Clin Endocrinol Metab. 1999;84:844-852.
40. Padeh S, Theodor R, Jonas A, Passwell JH. Severe malabsorption in autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy syndrome successfully treated with immunosuppression. Arch Dis Child. 1997;76:532-534.
41. Gavanescu I, Benoist C, Mathis D. B cells are required for Airedeficient mice to develop multi-organ autoinflammation: a therapeutic approach for APECED patients. Proc Natl Acad Sci USA. 2008;105:13009-13014.
42. Popler J, Alimohammadi M, Kämpe O, Dalin F, Dishop MK, Barker JM, et al. Autoimmune polyendocrine syndrome type 1: utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. Pediatr Pulmonol. 2012; 47:84-87.