Clinical and molecular findings in IPEX syndrome

Archives of Disease in Childhood

Volumn 91, Issue 1, 2006, Pages 63-64

  Myers, A K ^a   Perroni, L ^b   Costigan, C ^a   Reardon, W ^a  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b GALLIERA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSCRIPTION FACTOR FOXP3;

ARTICLE; CASE REPORT; DNA SEQUENCE; ENTEROPATHY; GENE MUTATION; HUMAN; IMMUNE DYSREGULATION; INFANT; IPEX SYNDROME; MALE; PHENOTYPE; POLYENDOCRINOPATHY; PRIORITY JOURNAL; SYNDROME DELINEATION; X CHROMOSOME LINKAGE; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; FORKHEAD TRANSCRIPTION FACTORS; GENETIC DISEASES, X-LINKED; HUMANS; IMMUNE SYSTEM DISEASES; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; SYNDROME;

EID: 30344482899     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2005.078287     Document Type: Article

References (5)

1. Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 2002;39:537-45.
2. Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med 2004;350:2068-77.
3. Wildin RS, Ramsdell F, Peake J, et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome of the mouse scurfy. Nature Genet 2001;27:18-20.
4. Bennett CL, Christie J, Ramsdell F, et al. The immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) is caused by mutations of FOXP3. Nature Genet 2001;27:20-1.
5. Chatila TA, Blaeser F, Ho N, et al. JM2, encoding a fork head-related protein is mutated in X-linked autoimmunity-allergic dysregulation (sic) syndrome. J Clin Invest 2000;106:R75-81.