Extremely early onset IPEX syndrome caused by a novel small exonic deletion in FOXP3

Journal of Pediatric Gastroenterology and Nutrition

Volumn 63, Issue 5, 2016, Pages e119-e120

  Smith, Erika ^a   Greeley, Siri Atma W ^b   Ye, Honggang ^b   Torgerson, Troy R ^c   Dimmitt, Reed ^a   Atkinson, Prescott ^a   Philips, Joseph ^a   Goldman, Frederick ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b University of Chicago ^*  (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CARBOHYDRATE; CYCLOSPORIN A; ELASTASE; ELECTROLYTE; GLUTAMIC ACID; INSULIN; MEDIUM CHAIN TRIACYLGLYCEROL; OIL; PANCREAS ENZYME; TRANSCRIPTION FACTOR FOXP3; FORKHEAD TRANSCRIPTION FACTOR; FOXP3 PROTEIN, HUMAN;

ALLOGENIC BONE MARROW TRANSPLANTATION; AMINO ACID SUBSTITUTION; BACTEREMIA; BIOPSY; BIRTH WEIGHT; BLOOD CELL COUNT; CANDIDEMIA; CASE REPORT; CD25+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CELL POPULATION; CELLULITIS; CODING; COOMBS POSITIVE HEMOLYTIC ANEMIA; DIARRHEA; DNA BINDING; ECHOGRAPHY; ENDOSCOPY; ENTEROPATHY; ENZYME REPLACEMENT; EOSINOPHILIA; ERYTHEMA; EXON; FECES; FEEDING; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; HYPERGLYCEMIA; IMMUNOSUPPRESSIVE TREATMENT; INFANT; INSULIN BLOOD LEVEL; INTESTINE VILLUS ATROPHY; INTRAUTERINE GROWTH RETARDATION; IPEX SYNDROME; LABORATORY TEST; LAMINA PROPRIA; LUNG HEMORRHAGE; MALE; MEDICAL HISTORY; METABOLIC ACIDOSIS; NUTRITIONAL STATUS; OLIGOHYDRAMNIOS; PANCREAS DISEASE; PATIENT REFERRAL; POLYENDOCRINOPATHY; PREGNANCY; PRIORITY JOURNAL; RECURRENT DISEASE; REGULATORY T LYMPHOCYTE; SHORT SURVEY; SMALL FOR DATE INFANT; THROMBOCYTOPENIA; VEIN OCCLUSION; BONE MARROW TRANSPLANTATION; FATALITY; GENETICS; GESTATIONAL AGE; IMMUNOPATHOLOGY; INSULIN DEPENDENT DIABETES MELLITUS; NEWBORN; X CHROMOSOME LINKED DISORDER;

BONE MARROW TRANSPLANTATION; DIABETES MELLITUS, TYPE 1; DIARRHEA; EXONS; FATAL OUTCOME; FORKHEAD TRANSCRIPTION FACTORS; GENE DELETION; GENETIC DISEASES, X-LINKED; GESTATIONAL AGE; HUMANS; HYPERGLYCEMIA; IMMUNE SYSTEM DISEASES; INFANT, NEWBORN; INFANT, SMALL FOR GESTATIONAL AGE; MALE;

EID: 85027946772     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0000000000000554     Document Type: Short Survey

References (7)

1. Singhi A, Goyal A, Davison J, et al. Pediatric autoimmune enteropathy: an entity frequently associated with immunodeficiency orders. Mod Pathol 2014;27:543-53.
2. Hannibal M, Torgerson T. IPEX Syndrome. Gene Reviews. University of Washington: Seattle, WA. https://www.ncbi.nlm.nih.gov/books/NBK1118/. Accessed May 18, 2014.
3. Fuchizawa T, Adachi Y, Ito Y, et al. Developmental changes of FOXP3-expressing CD4?CD25? regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol 2007;125:237-46.
4. Van der Vliet H, Nieuwenhuis E. IPEX as a result of mutations in FOXP3. Clin Dev Immunol 2007;2007:89017doi: 10.1155/2007/89017.
5. D'Hennezel E, Dhuban K, Torgerson T. The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 2012;49:291-302.
6. Greeley SAW, Naylor RN, Philipson LH, et al. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. Curr Diab Rep 2011;11:519-32.
7. Owen C, Jennings C, Imrie H, et al. Mutational Analysis of the FOXP3 Gene and Evidence for Genetic Heterogeneity in the Immunodysregulation, Polyendocrinopathy, Enteropathy Syndrome. J Clin Endocrinol Metab 2003;88:6034-9.