Clinical case of immune dysregulation, polyendocrinopaty, enteropathy, X-linked (IPEX) syndrome with severe immune deficiency and late onset of endocrinopathy and enteropathy

Case Reports in Medicine

Volumn 2014, Issue , 2014, Pages

  Savova, R ^a   Arshinkova, M ^a   Houghton, J ^b   Konstantinova, M ^a   Gaydarova, M ^a   Georgieva, E ^a   Popova, G ^a   Genova, V ^a   Tomova, N ^a   Anadoliiska, A ^a   Koprivarova, K ^a  

^a Department of Gastroenterology   (Bulgaria)

^b UNIVERSITY OF EXETER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; DIURETIC AGENT; IMMUNOGLOBULIN E; METHYLPREDNISOLONE; MILK PROTEIN;

ABSCESS; ARTICLE; BLOOD OXYGEN TENSION; BODY WEIGHT; CACHEXIA; CASE REPORT; CHILD; COARSE FACE; CORTICOSTEROID THERAPY; CYANOSIS; DISEASE COURSE; DNA DETERMINATION; ECZEMA; EOSINOPHILIA; ERYTHRODERMA; EXON; FAMILY HISTORY; FLUID RETENTION; GENE MUTATION; HOSPITAL PATIENT; HOSPITALIZATION; HUMAN; HUMORAL IMMUNITY; HYPER IGE SYNDROME; HYPOPROTEINEMIA; HYPOTROPHY; IMMUNE DEFICIENCY; INFECTION; INSULIN DEPENDENT DIABETES MELLITUS; IPEX SYNDROME; JOINT LAXITY; KETOACIDOSIS; MALE; MALNUTRITION; MEDICAL SCHOOL; MENINGITIS; MUSCLE HYPOTONIA; NEPHRITIS; OXYGEN SUPPLY; PNEUMOCYSTIS CARINII; PNEUMONIA; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PYELONEPHRITIS; RADIODIAGNOSIS; RASH; RESPIRATORY FAILURE; SEPTICEMIA; STREPTOCOCCUS PNEUMONIAE; TACHYPNEA; TOTAL PARENTERAL NUTRITION; UNDERWEIGHT; VERNER MORRISON SYNDROME;

EID: 84969693475     PISSN: 16879627     EISSN: 16879635     Source Type: Journal    
DOI: 10.1155/2014/564926     Document Type: Article

References (26)

1. Rioux J. D., Goyette P., Vyse T. J., Hammarström L., Fernando M. M. A., Green T., de Jager P. L., Foisy S., Wang J., de Bakker P. I. W., Leslie S., McVean G., Padyukov L., Alfredsson L., Annese V., Hafler D. A., Pan-Hammarström Q., Matell R., Sawcer S. J., Compston A. D., Cree B. A. C., Mirel D. B., Daly M. J., Behrens T. W., Klareskog L., Gregersen P. K., Oksenberg J. R., Hauser S. L., Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. Proceedings of the National Academy of Sciences of the United States of America 2009 106 44 18680 18685 2-s2.0-73249122274 10.1073/pnas.0909307106
2. European Consortium for IDDM Genome Studies, A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions. The American Journal of Human Genetics 2001 69 6 1301 1313 10.1086/324341 (Pubitemid 33124212)
3. Todd J. A., Walker N. M., Cooper J. D., Smyth D. J., Downes K., Plagnol V., Bailey R., Nejentsev S., Field S. F., Payne F., Lowe C. E., Szeszko J. S., Hafler J. P., Zeitels L., Yang J. H. M., Vella A., Nutland S., Stevens H. E., Schuilenburg H., Coleman G., Maisuria M., Meadows W., Smink L. J., Healy B., Burren O. S., Lam A. A. C., Ovington N. R., Allen J., Adlem E., Leung H.-T., Wallace C., Howson J. M. M., Guja C., Ionescu-Tîrgovişte C., Simmonds M. J., Heward J. M., Gough S. C. L., Dunger D. B., Wicker L. S., Clayton D. G., Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics 2007 39 7 857 864 2-s2.0-34347341846 10.1038/ng2068 (Pubitemid 47018195)
4. Barrett J. C., Clayton D. G., Concannon P., Akolkar B., Cooper J. D., Erlich H. A., Julier C., Morahan G., Nerup J., Nierras C., Plagnol V., Pociot F., Schuilenburg H., Smyth D. J., Stevens H., Todd J. A., Walker N. M., Rich S. S., Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nature Genetics 2009 41 6 703 707 2-s2.0-67349199566 10.1038/ng.381
5. Moore F., Colli M. L., Cnop M., Esteve M. I., Cardozo A. K., Cunha D. A., Bugliani M., Marchetti P., Eizirik D. L., PTPN2, a candidate gene for type 1 diabetes, modulates interferon- γ-induced pancreatic β -cell apoptosis. Diabetes 2009 58 6 1283 1291 2-s2.0-66649132790 10.2337/db08-1510
6. Husebye E. S., Anderson M. S., Autoimmune polyendocrine syndromes: clues to type 1 diabetes pathogenesis. Immunity 2010 32 4 479 487 2-s2.0-77951921063 10.1016/j.immuni.2010.03.016
7. D'Hennezel E., Dhuban K. B., Torgerson T., Piccirillo C., The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. Journal of Medical Genetics 2012 49 5 291 302 10.1136/jmedgenet-2012-100759
8. Kinnunen T., Chamberlain N., Morbach H., Choi J., Kim S., Craft J., Mayer L., Cancrini C., Passerini L., Bacchetta R., Ochs H. D., Torgerson T. R., Meffre E., Accumulation of peripheral autoreactive B cells in the absence of functional human regulatory T cells. Blood 2013 121 9 1595 1603 10.1182/blood-2012-09-457465
9. Leonardo S. M., Josephson J. A., Hartog N. L., Gauld S. B., Altered B cell development and anergy in the absence of Foxp3. Journal of Immunology 2010 185 4 2147 2156 2-s2.0-77956941793 10.4049/jimmunol.1000136
10. Rubio-Cabezas O., Minton J. A. L., Caswell R., Shield J. P., Deiss D., Sumnik Z., Cayssials A., Herr M., Loew A., Lewis V., Ellard S., Hattersley A. T., Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes. Diabetes Care 2009 32 1 111 116 2-s2.0-64549112708 10.2337/dc08-1188
11. Moraes-Vasconcelos D., Costa-Carvalho B. T., Torgerson T. R., Ochs H. D., Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED. Journal of Clinical Immunology 2008 28 supplement 1 S11 S19 2-s2.0-44449110577 10.1007/s10875-008-9176-5
12. Ozcan E., Notarangelo L. D., Geha R. S., Primary immune deficiencies with aberrant IgE production. Journal of Allergy and Clinical Immunology 2008 122 6 1054 1064 2-s2.0-57149128460 10.1016/j.jaci.2008.10.023
13. Jyonouchi H., Steele R. W., Hyperimmunoglobulinemia E, (Job) Syndrome. http://emedicine.medscape.com/article/886988-overview
14. Powell B. R., Buist N. R. M., Stenzel P., An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. Journal of Pediatrics 1982 100 5 731 737 2-s2.0-0020038580 (Pubitemid 12155977)
15. Shigeoka A. O., Chance P. F., Fain P. R., Barker D. F., Book L. S., Rallison M. L., Regional localization of a novel X-linked immunodeficiency with autoimmune disease and enteropathies to the Wiskott-Aldrich locus Xp11.2. Pediatric Research 1993 33, article 158A
16. Ferguson P. J., Blanton S. H., Saulsbury F. T., McDuffie M. J., Lemahieu V., Gastier J. M., Franke U., Borowitz S. M., sutphen L. L., Kelly T. E., Manifestations and linkage analysis in X-linked autoimmuniyi-immunodefficciency syndrome. The American Journal of Medical Genetics 2000 90 5 390 397 10.1002/(SICI)1096-8628(20000228)90:5<390::AID-AJMG9>3.0.CO;2-M (Pubitemid 30080638)
17. Bennet C. L., Yoshioka R., Kiosawa H., Barker D. F., Fain P. R., X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. The American Journal of Human Genetics 2000 66 2 461 468 10.1086/302761 (Pubitemid 30468824)
18. Torgerson T. R., Ochs H. D., Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. Journal of Allergy and Clinical Immunology 2007 120 4 744 752 10.1016/j.jaci.2007.08.044 (Pubitemid 47531861)
19. D'Hennezel E., Ben-Shoshan M., Ochs H. D., Torgerson T. R., Russell L. J., Lejtenyi C., Noya F. J., Jabado N., Mazer B., Piccirillo C. A., FOXP3 forkhead domain mutation and regulatory T cells in the IPEX syndrome. The New England Journal of Medicine 2009 361 17 1710 1713 2-s2.0-70350328995
20. 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 G. F., Ugazio A. G., Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Clinical Gastroenterology and Hepatology 2006 4 5 653 659 2-s2.0-33646129676 10.1016/j.cgh.2005.12.014
21. Hashimura Y., Nozu K., Kanegane H., Miyawaki T., Hayakawa A., Yoshikawa N., Nakanishi K., Takemoto M., Iijima K., Matsuo M., Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatric Nephrology 2009 24 6 1181 1186 2-s2.0-67650283786 10.1007/s00467-009-1119-8
22. Bae K. W., Kim B. E., Choi J.-H., Lee J. H., Park Y. S., Kim G.-H., Yoo H. W., Seo J. J., A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. European Journal of Pediatrics 2011 170 12 1611 1615 2-s2.0-82655162042 10.1007/s00431-011-1588-1
23. Gambineri E., Perroni L., Passerini L., Bianchi L., Doglioni C., Meschi F., Bonfanti R., Sznajer Y., Tommasini A., Lawitschka A., Junker A., Dunstheimer D., Heidemann P. H., Cazzola G., Cipolli M., Friedrich W., Janic D., Azzi N., Richmond E., Vignola S., Barabino A., Chiumello G., Azzari C., Roncarolo M.-G., Bacchetta R., Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. Journal of Allergy and Clinical Immunology 2008 122 6 1105 1112 2-s2.0-57249097253 10.1016/j.jaci.2008.09.027
24. Lal G., Bromberg J. S., Epigenetic mechanisms of regulation of Foxp3 expression. Blood 2009 114 18 3727 3735 2-s2.0-70449717294 10.1182/blood-2009- 05-219584
25. + conventional T cells. European Journal of Immunology 2007 37 9 2378 2389 2-s2.0-34548755672 10.1002/eji.200737594 (Pubitemid 47423608)
26. Barzaghi F., Passerini L., Gambineri E., Ciullini Mannurita S., Cornu T., Kang E. S., Choe Y. H., Cancrini C., Corrente S., Ciccocioppo R., Cecconi M., Zuin G., Discepolo V., Sartirana C., Schmidtko J., Ikinciogullari A., Ambrosi A., Roncarolo M. G., Olek S., Bacchetta R., Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. Journal of Autoimmunity 2012 38 1 49 58 2-s2.0-84856667596 10.1016/j.jaut.2011. 12.009