Autoimmune enteropathy in Schimke immunoosseous dysplasia

American Journal of Medical Genetics

Volumn 77, Issue 5, 1998, Pages 427-430

  Kaitila, I ^a   Savilahti, E ^b   Ormala T ^c  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

Autoimmune enteropathy; Hepatopathy; Intestinal morphology; Malabsorption; Nephropathy; Schimke immunoosseous dysplasia; SID; Spondyloepiphyseal dysplasia

Indexed keywords

GLIADIN ANTIBODY; IMMUNOGLOBULIN A;

ARTICLE; AUTOIMMUNITY; BONE DYSPLASIA; BRAIN INFARCTION; CASE REPORT; DIARRHEA; ENTEROPATHY; GROWTH RETARDATION; HUMAN; JEJUNUM; KIDNEY DISEASE; KIDNEY FAILURE; LIVER DISEASE; MALABSORPTION; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SKIN PIGMENTATION; SPONDYLOEPIPHYSEAL DYSPLASIA; STEATORRHEA; VOMITING;

AUTOIMMUNE DISEASES; CEREBRAL INFARCTION; CHILD, PRESCHOOL; GASTROINTESTINAL DISEASES; GROWTH DISORDERS; HUMANS; KIDNEY FAILURE; LIVER; MALE; OSTEOCHONDRODYSPLASIAS;

EID: 0032486131     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980605)77:5<427::AID-AJMG14>3.0.CO;2-K     Document Type: Article

References (17)

1. Boerkoel C, Nowaczyk M, Blaser S, Lewis D, Weksberg R: Cerebral moyamoya and autosomal recessive inheritance (poster and abstract). 3rd International Skeletal Dysplasia Society Meeting, Marina del Rey, California, Aug 7-9, 1997.
2. Boerkoel CF, Nowaczyk MJM, Meschino WS, Blaser SI, Weksberg R: Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. Am J Med Genet, in press.
3. Chrystie IL, Booth IW, Kidd AH, Marshall WC, Banatvala JE (1982): Multiple fecal virus excretion in immunodeficiency (letter). Lancet 1: 282.
4. Cuenod B, Brousse N, Goulet O, de Potter S, Mougenot J-F, Ricour C, Guy-Grand D, Cerf-Bensussan N (1990): Classification of intractable diarrhea in infancy using clinical and immunohistological criteria. Gastroenterology 99:1037-1043.
5. Dickey W, McMillan SA, Collins JS, Watson RG, McLoughlin JC, Love AH (1995): Liver abnormalities associated with celiac sprue. How common are they, what is their significance, and what do we do about them? J Clin Gastroenterol 20:290-292.
6. Hannet I, Erkeller-Yuksel F, Lydyard P, Deneys V, DeBrueyre M (1992): Developmental and maturational changes in human blood lymphocyte subpopulations. Immunol Today 13:215-218.
7. Hashimoto K, Takeuchi A, Ieshima A, Takada M, Kasagi M (1994): Juvenile variant of Schimke immunoosseous dysplasia. Am J Med Genet 49:266-269.
8. Kuitunen P, Kosnai I, Savilahti E (1982): Morphometric study of the jejunal mucosa in various childhood enteropathies with special references to intraepithelial lymphocytes. J Pediatr Gastroenterol 1: 525-531.
9. Marsh MN (1992): Gluten, major histocompatibility complex, and the small intestine: A molecular and immunobiologic approach to the spectrum of gluten sensitivity (celiac sprue). Gastroenterology 102:330-354.
10. Mäkitie O, Kaitila I (1993): Cartilage-hair hypoplasia: Clinical manifestations in 108 Finnish patients. Eur J Pediatr 152: 211-217.
11. Milla PJ (1995): Autoimmune enteropathy. In Auricchio S, Ferguson A, Troncone R (eds): "Mucosal Immunity and the Gut Epithelium: Interactions in Health and Disease," Vol 4. Dyn Nutr Res. Basel: Karger, pp 127-135.
12. Savilahti E, Örmälä T, Arato A, Hacsek G, Holm K, Klemola T, Nemeth A, Mäki M, Reunala T (1997): Density of γ/δ-positive T-cells in the jejunal epithelium of patients with coeliac disease and dermatitis herpetiformis is increased with age. Clin Exp Immunol 109:464-467.
13. Schimke RN, Horton WA, King CR (1971): Chondroitin-6-sulfaturia, defective cellular immunity and nephrotic syndrome. Lancet 2:1088-1089.
14. Spencer J, Isaacson PG, Diss TC, MacDonald TT (1989): Expression of disulfide-linked and non-disulfide-linked forms of the T cell receptor γ/δ heterodimer in human intestinal intraepithelial lymphocytes. Eur J Immunol 19:1335-1338.
15. Spranger J, Hinkel GK, Stöss H, Thoenes W, Wargowski D, Zepp F (1991): Schimke immuno-osseous dysplasia: A newly recognized multisystem disease. J Pediatr 119: 64-72.
16. Unsworth DI, Walker-Smith JA (1985): Autoimmunity and diarrhoeal disease. J Pediatr Gastroenterol Nutr 4:375-380.
17. Vajro P, Fontanella A, Mayer M, De-Vincenzo A, Terraciano LM (1993): Elevated serum aminotransferase activity as an early manifestation of gluten sensitive enteropathy. J Pediatr 122: 416-419.