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Crohn disease

Crohn ileitis and colitis (ileocaecal region) Crohn ileitis and colitis (ileocaecal region) Crohn ileitis and colitis (ileocaecal region) Crohn ileitis and colitis (ileocaecal region) Crohn ileitis Colonic stenosis in Crohn disease Colonic stenosis in Crohn disease Colonic stenosis in Crohn disease Colonic stenosis in Crohn disease Colonic stenosis in Crohn disease Colonic stenosis in Crohn disease Acute colonic cryptitis in Crohn disease Acute colonic cryptitis in Crohn disease Colonic Crohn disease (Crohn colitis) Crohn ileitis (Ileal Crohn disease) Crohn ileitis (Ileal Crohn disease) Crohn ileitis (Ileal Crohn disease) Crohn ileitis (Ileal Crohn disease) Crohn ileitis

Localization

- digestive 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)

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