Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome without extraintestinal symptoms in a Japanese infant with a novel mutation of FOXP3 gene [3]

Acta Paediatrica, International Journal of Paediatrics

Volumn 93, Issue 1, 2004, Pages 142-143

  Tanaka, H ^a   Suzuki, K ^a   Nakahata, T ^a   Kobayashi, I ^b   Kubota, M ^b   Ito, E ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOSPORIN A; PREDNISOLONE;

ANAMNESIS; AUTOIMMUNE DISEASE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC TEST; DISEASE COURSE; DUODENUM BIOPSY; ENTEROPATHY; FAMILIAL DISEASE; GENETIC ANALYSIS; HISTOPATHOLOGY; HOSPITAL ADMISSION; HUMAN; IMMUNE DYSREGULATION POLYENDOCRINOPATHY ENTEROPATHY X LINKED SYNDROME; LABORATORY TEST; LETTER; LOW DRUG DOSE; MALE; MEDICAL EXAMINATION; NEWBORN; PATIENT REFERRAL; PRIORITY JOURNAL; TISSUE SECTION; TOTAL PARENTERAL NUTRITION; TREATMENT OUTCOME; X CHROMOSOME LINKED DISORDER;

CYCLOSPORINE; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; MALE;

EID: 1642455945     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035250310006719     Document Type: Letter

References (6)

1. Powell BR, Buist NRM, Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 1982; 100: 731-6
2. Satake N, Nakanishi M, Okano M, Tomizawa K, Ishizaka A, Kojima K, et al. A Japanese family of X-linked autoimmune enteropathy with haemolytic anaemia and polyendocrinopathy. Eur J Pediatr 1993; 152: 313-5
3. Russo PA, Brochu P, Seidman EG, Roy CC. Autoimmune enteropathy. Pediatr Dev Pathol 1999; 2: 65-71
4. Bennet CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nature Genet 2001; 27: 20-1
5. Kobayashi I, Shirai R, Yamada M, Kawamura N, Okano M, Yara A, et al. Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). J Med Genet 2001; 38: 874-6
6. Kobayashi I, Imamura K, Kubota M, Ishikawa S, Yamada M, Tonoki H, et al. Identification of an autoimmune enteropathy-related 75-kilodalton antigen. Gastroenterology 1999; 117: 823-30