Crohn disease

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)

• 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)

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