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Crohn disease

Tuesday 30 December 2003

Localization

- digestive Crohn disease

  • gastric Crohn disease (Crohn gastritis)
  • intestinal Crohn disease and ileal Crohn disease (Crohn ileitis)
  • colorectal Crohn disease and colonic Crohn disease

- pulmonary Crohn disease
- skin (cutaneous Crohn disease) (14652821)

- granulomatous arthritis (5033840)

Genetic susceptibility

- Locus IBD1 (MIM.266600) at 16q12: CARD15 (NOD2) germline mutations (MIM.605956)
- IBD2 (MIM.601458) on 12p13.2-q24.1
- IBD3 (MIM.604519) on 6p
- IBD4 (MIM.606675) on 14q11-q12
- IBD5 (MIM.606348) on 5q31
- IBD6 (MIM.606674) on 19p13
- IBD7 (MIM.605225) on 1p36
- IBD8 (MIM.606668) on 16p not linked to NOD2/CARD15
- IBD9 (MIM.608448) on 3p26
- IBD10 : susceptibility linked to variation in the ATG16L1 gene (MIM.610767) at 2q37.1

- Locus SLC22A4 at 5q31: variations in SLC22A4 in the organic cation transporter cluster (OCTN) (15107849)
- Locus at 5p13.1
- Locus IL23R
- Locus at 3p21
- Locus at 4p16.1
- Locus ATG16L1
- Locus at 17q11.1
- Locus at 17q22-q23

Associations

- juvenile myelomonocytic leukemia (JMML) with monosomy 7 ()
- slight increase risk for lymphoma (?) (12408504, 11241255, 11007233)

Microscopy Video

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References

- Revisiting Crohn’s disease as a primary immunodeficiency of macrophages. Casanova JL, Abel L. J Exp Med. 2009 Aug 31;206(9):1839-43. PMID: 19687225

- Mathew CG. New links to the pathogenesis of Crohn disease provided by genome-wide association scans. Nat Rev Genet. 2008 Jan;9(1):9-14. PMID: 17968351

- Comalada M, Peppelenbosch MP. Impaired innate immunity in Crohn’s disease. Trends Mol Med. 2006 Sep;12(9):397-9. PMID: 16890491

- Schreiber S, Rosenstiel P, Albrecht M, Hampe J, Krawczak M. Genetics of Crohn disease, an archetypal inflammatory barrier disease. Nat Rev Genet. 2005 May;6(5):376-88. PMID: 15861209

- Russell RK, Nimmo ER, Satsangi J. Molecular genetics of Crohn’s disease. Curr Opin Genet Dev. 2004 Jun;14(3):264-70. PMID: 15172669

- Pizarro TT, Arseneau KO, Bamias G, Cominelli F. Mouse models for the study of Crohn’s disease. Trends Mol Med. 2003 May;9(5):218-22. PMID: 12763527

- Podolsky DK. Inflammatory bowel disease. N Engl J Med. 2002 Aug 8;347(6):417-29. PMID: 12167685

- Elson CO. Genes, microbes, and T cells—new therapeutic targets in Crohn’s disease. N Engl J Med. 2002 Feb 21;346(8):614-6. PMID: 11856802

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