Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

Diabetes Care

Volumn 32, Issue 1, 2009, Pages 111-116

  Rubio Cabezas, Oscar ^a,b   Minton, Jayne A L ^a   Caswell, Richard ^c   Shield, Julian P ^d   Deiss, Dorothee ^e   Sumnik, Zdenek ^f   Cayssials, Amely ^g   Herr, Mathias ^e,h   Loew, Anja ⁱ   Lewis, Vaughan ^j   Ellard, Sian ^a   Hattersley, Andrew T ^a  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f CHARLES UNIVERSITY   (Czech Republic)

^g HOSPITAL ITALIANO DE BUENOS AIRES   (Argentina)

^h DRK KLINIKEN BERLIN WESTEND   (Germany)

ⁱ Kinderklinik Dritter Orden   (Germany)

^j Department of Pediatrics   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR FOXP3;

ARTICLE; AUTOIMMUNE DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIABETES MELLITUS; ENTEROPATHY; EXON; FEMALE; FOXP3 GENE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETICS; HUMAN; HYPOTHYROIDISM; IPEX SYNDROME; MALE; NEPHROTIC SYNDROME; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; PERMANENT NEONATAL DIABETES; PHENOTYPE; POLYADENYLATION; PREVALENCE; SURVIVAL TIME;

AMINO ACID SUBSTITUTION; AUTOIMMUNE DISEASES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; DIABETES MELLITUS, TYPE 1; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 64549112708     PISSN: 01495992     EISSN: 19355548     Source Type: Journal    
DOI: 10.2337/dc08-1188     Document Type: Article

References (24)

1. Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, Gillespie KM: HLA genotyping supports a nonautoim-mune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes 55:1895-1898, 2006
2. Iafusco D, Stazi MA, Cotichini R, Cotellessa M, Martinucci ME, Mazzella M, Cherubini V, Barbetti F, Martinetti M, Cerutti F, Prisco F; Early Onset Diabetes Study Group of the Italian Society of Pae-diatric Endocrinology and Diabetology: Permanent diabetes mellitus in the first year of life. Diabetologia 45:798-804, 2002 [erratum in Diabetologia 46:140, 2003]
3. Chatila TA, Blaeser F, Ho N, Lederman HM, Voulgaropoulos C, Helms C, Bow-cock AM: JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. J Clin Invest 106:R75-R81, 2000
4. Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, Bri-carelli FD, Byrne G, McEuen M, Proll S, Appleby M, Brunkow ME: X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 27: 18-20, 2001
5. Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD: The immune dysregulation, polyen-docrinopathy, enteropathy, X-linked syn- drome (IPEX) is caused by mutations of FOXP3. Nat Genet 27:20-21, 2001
6. + regulatory T cells in autoimmune diseases. Nat Clin Pract Rheumatol 3:619-626, 2007
7. Caudy AA, Reddy ST, Chatila T, Atkinson JP, Verbsky JW: CD25 deficiency causes an immune dysregulation, polyendocri-nopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immunol 119:482-487, 2007
8. Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD: Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED. J Clin Immunol 28 (Suppl. 1):11-19, 2008
9. Powell BR, Buist NR, Stenzel P: An X-linked syndrome of diarrhea, polyen-docrinopathy, and fatal infection in infancy. J Pediatr 100:731-737, 1982
10. De Benedetti F, Insalaco A, Diamanti A, Cortis E, Muratori F, Lamioni A, Carsetti R Cusano R, De Vito R, Perroni L, Gambarara M, Castro M, Bottazzo GF, Ugazio AG: Mechanistic associations of a mild phe-notype of immunodysregulation, poly-endocrinopathy, enteropathy, x-linked syndrome. Clin Gastroenterol Hepatol 4:653-659, 2006
11. Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Law-itschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG: Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest 116: 1713-1722, 2006
12. + channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 56:1930-1937, 2007 [erratum in Diabetes 57: 523, 2008]
13. Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM: Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet 81:375-382, 2007
14. Edghill EL, Flanagan SE, Patch AM, Bous-tred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philip-son LH, Bell GI, Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S: Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 57:1034-1042, 2008
15. Arnold K, Bordoli L, Kopp J, Schwede T: The SWISS-MODEL Workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22: 195-201, 2006
16. GuexN, PeitschMC: SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modelling. Electrophoresis 18:2714-2723, 1997
17. Kobayashi I, Shiari R, Yamada M, Kawamura N, Okano M, Yara A, Iguchi A, Ishikawa N, Ariga T, Sakiyama Y, Ochs HD, Kobayashi K: Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopa-thy, enteropathy, X linked syndrome (IPEX). J Med Genet 38:874-876, 2001
18. + regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol 125:237-246, 2007
19. Lopes JE, Torgerson TR, Schubert LA, Anover SD, Ocheltree EL, Ochs HD, Ziegler SF: Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor. J Immunol 177:3133-3142, 2006
20. Rao A, Kamani N, Filipovich A, Lee SM, Davies SM, Dalal J, Shenoy S: Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood 109:383-385, 2007
21. Otonkoski T, Roivainen M, Vaarala O, Dinesen B, Leipala JA, Hovi T, Knip M: Neonatal type I diabetes associated with maternal echovirus 6 infection: a case report. Diabetologia 43:1235-1238, 2000
22. Agras PI, Kinik ST, Cengiz N, Baskin E: Type 1 diabetes mellitus associated with nephrotic syndrome. J Pediatr Endocrinol Metab 19:1045-1048, 2006
23. Aaltonen P, Rinta-Valkama J, Patari A, Tossavainen P, Palmen T, Kulmala P, Knip M, Holthöfer H: Circulating antibodies to nephrin in patients with type 1 diabetes. Nephrol Dial Transplant 22:146-153,2007
24. Moudgil A, Perriello P, Loechelt B, Przy-godzki R, Fitzerald W, Kamani N: Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy. Pediatr Nephrol 22:1799-1802, 2007