Localization
- 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)
- pyoderma gangrenosum
- erythema nodosum (septal panniculitis)
- metastatic Crohn’s disease
- neutrophilic lobular panniculitis (11305385)
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)
- hepatosplenic T-gammadelta cell lymphoma (15699701, 12688327)
- EBV-associated lymphoma (15475752)
- diffuse B-cell lymphoma and lymphomatoid granulomatosis
- primary gastric mantle cell lymphoma (15359648)
- extraintestinal Hodgkin lymphoma (12938798, 12548423)
- primary intestinal lymphoma (12642741)
- ileocaecal Epstein-Barr virus-positive lymphoproliferative disorder (10564397)
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