An infant with severe refractory Crohn's disease and homozygous MEFV mutation who dramatically responded to colchicine

Rheumatology International

Volumn 32, Issue 3, 2012, Pages 783-785

  Kuloǧlu, Zarife ^a,b   Kansu, Aydan ^a   Üstündaǧ, Gonca ^a   Birsin Ozcakar Z ^a   Ensari, Arzu ^a   Ekim, Mesiha ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b Çamlitepe Mah ^*  (Turkey)

Author keywords

Children; Crohn's disease; Familial Mediterranean fever

Indexed keywords

AZATHIOPRINE; COLCHICINE; CORTICOSTEROID; CYCLOSPORIN; MESALAZINE; CYTOSKELETON PROTEIN; MARENOSTRIN; TUBULIN MODULATOR;

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; COLITIS; COLON BIOPSY; COLONOSCOPY; CROHN DISEASE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; ILEITIS; INFANT; LABORATORY TEST; MALE; MEFV GENE; PANCOLITIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TREATMENT FAILURE; TREATMENT OUTCOME; DRUG COMBINATION; GENETICS; HOMOZYGOTE; MUTATION;

AZATHIOPRINE; COLCHICINE; CROHN DISEASE; CYCLOSPORINE; CYTOSKELETAL PROTEINS; DRUG THERAPY, COMBINATION; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION; TREATMENT OUTCOME; TUBULIN MODULATORS;

EID: 84863319118     PISSN: 01728172     EISSN: 1437160X     Source Type: Journal    
DOI: 10.1007/s00296-009-1326-4     Document Type: Article

References (15)

1. Heyman MB, Kirschner BS, Gold BD et al (2005) Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric consortium registry. J Pediatr 146:35-40 (Pubitemid 40091728)
2. Cattan D, Notarnicola C, Molinari N, Toutiou I (2000) Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever. Lancet 355:378-379
3. Fidder H, Chowers Y, Lidar M et al (2002) Crohn's disease in patients with familial Mediterranean fever. Medicine 81:411-416 (Pubitemid 35285960)
4. Fidder H, Chowers Y, Ackerman Z et al (2005) The familial Mediterranean fever (MEVF) gene as a modifier of Crohn's disease. Am J Gastroenterol 100:338-343 (Pubitemid 40314518)
5. Giaglis S, Mimidis K, Papadopoulos V et al (2006) Increased frequency of mutations in gene responsible for familial Mediterranean fever (MEFV) in a cohort of patient with ulcerative colitis: evidence for a potential disease-modifying effect? Dig Dis Sci 51:687-692
6. Ogura Y, Bonen DK, Inhora N et al (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411:603-606 (Pubitemid 32531409)
7. Ogura Y, Inohara N, Benito A et al (2001) Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NFjb. J Biol Chem 276:4812-4818
8. Bouma G, Strober W (2003) The immunologic and genetic basis of inflammatory bowel disease. Nat Rev Immunol 3:521-533 (Pubitemid 37328672)
9. McDermott MF (2004) A common pathway in periodic fever syndromes. Trends Immunol 25:457-460 (Pubitemid 39490250)
10. Richards N, Schaner P, Diaz A et al (2001) Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASCinduced apoptosis. J Biol Chem 276:39320-39329
11. Schwartz T, Langevitz P, Zemer D, Gazit E, Pras M, Livneh A (2000) Behçet's disease in Familial Mediterranean fever: characterization of the association between the two diseases. Semin Arthritis Rheum 29:286-295 (Pubitemid 30235980)
12. Gershoni-Baruch R, Broza Y, Brik R (2003) Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura. J Pediatr 143:658-661 (Pubitemid 37452797)
13. Tutar E, Akar N, Atalay S, Yilmaz E, Akar E, Yalçinkaya F (2002) Familial Mediterranean fever gene (MEFV) mutations in patients with rheumatic heart disease. Heart 87:568-569 (Pubitemid 34547988)
14. Karban A, Dagan E, Eliakim R et al (2005) Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease. Genes Immun 6:134-139 (Pubitemid 40439539)
15. Sari S, Egritas O, Dalgic B (2008) The familial Mediterranean fever (MEFV) gene may be a modifier factor of inflammatory bowel disease in infancy. Eur J Pediatr 167:391-393 (Pubitemid 351322468)