title: Familial autoimmune enteropathy with circulating anti-bullous pemphigoid antibodies and chronic autoimmune hepatitis.
abstract: In a family of four children (two boys and two girls), the two brothers had severe, protracted watery diarrhea beginning at 2 and 3 weeks of life, respectively. Duodenal mucosa in both patients showed total villous atrophy and severe inflammatory infiltration of the entire bowel. The first patient also had lymphoid cell infiltration of the pancreas and died at 6 weeks of age. The second boy is alive at 2 years of age and is immunocompetent, but still receives total parenteral nutrition. Indirect immunofluorescence studies revealed circulating antibodies to enterocytes, smooth muscle, thyroid, and islet cells. Bullous pemphigoid antibodies (230 and 180 kd), specific for hemidesmosomal proteins and usually associated with a subepidermal blistering skin disease, were detected by direct and indirect immunofluorescence studies and by Western immunoblot. A diagnosis of autoimmune hepatitis was made, based on evidence of chronic active hepatitis and circulating anti-smooth muscle antibody. Immunosuppressive treatments induced partial clinical remission of the diarrhea but no resolution of the small bowel injury. At 16 months of age, remission of the diarrhea occurred, but persistent autoimmune hepatitis led us to maintain treatment with prednisone and azathioprine, and later with cyclosporine. In this child, as in other patients with autoimmune disease, the link between autoantibodies and organ damage remains uncertain but immunosuppressive treatment is indicated.
authors.affiliation: Service d'Hépatogastroentérologie et Nutrition Pédiatriques, Hôpital Edourdo Herriot, Lyon, France.
authors.forename: A
authors.initials: A
authors.lastname: Lachaux
authors.forename: R
authors.initials: R
authors.lastname: Bouvier
authors.forename: E
authors.initials: E
authors.lastname: Cozzani
authors.forename: I
authors.initials: I
authors.lastname: Loras-Duclaux
authors.forename: J
authors.initials: J
authors.lastname: Kanitakis
authors.forename: M
authors.initials: M
authors.lastname: Chevallier
authors.forename: D
authors.initials: D
authors.lastname: Kaiserlian
mesh_terms: D001323:Autoantibodies / Q000032:analysis*; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology* / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D001402:B-Lymphocytes / Q000276:immunology; D002908:Chronic Disease; D003968:Diarrhea, Infantile / Q000276:immunology; D004848:Epithelium / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D005455:Fluorescent Antibody Technique; D006505:Hepatitis / Q000235:genetics / Q000276:immunology* / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007075:Immunoglobulin M / Q000097:blood; D007165:Immunosuppression Therapy; D007231:Infant, Newborn; D007410:Intestinal Diseases / Q000235:genetics / Q000276:immunology* / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D008297:Male; D010289:Parenteral Nutrition, Total; D010391:Pemphigoid, Bullous / Q000235:genetics / Q000276:immunology* / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D011852:Radioallergosorbent Test; D013601:T-Lymphocytes / Q000276:immunology
chemical_list: D001323:Autoantibodies; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M