Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021831 (enteropathy)
 4,403 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vitamin E deficiency causes a neurological disorder characterised by sensory loss, ataxia and retinitis pigmentosa due to free radical mediated neuronal damage. Symptomatic vitamin E deficiency has been reported in genetic defects of the vitamin E transport protein and in malabsorption complicating cholestasis, abetalipoproteinaemia, celiac disease, cystic fibrosis and small bowel resection. There are no reports to date of vitamin E deficiency in patients with primary immunodeficiencies. We describe two CVID patients with the associated enteropathy who developed neurological disease because of vitamin E deficiency, suggesting a possible predisposition to developing this complication. We recommend that all CVID patients with evidence of an enteropathy be screened for vitamin E deficiency, as early detection and consequent treatment may prevent, halt or reverse the neurological sequelae.
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PMID:Vitamin E deficiency induced neurological disease in common variable immunodeficiency: two cases and a review of the literature of vitamin E deficiency. 1520 78

CVID is a heterogeneous group of primary immunodeficiency diseases characterized by hypogammaglobulinemia, recurrent bacterial infections, and frequent autoimmune manifestations. The post-transplant course of liver transplant recipients with CVID is rarely described. We report two patients with CVID complicated by severe enteropathy who underwent living donor liver transplantation for liver failure because of severe hepatitis. The post-transplant course was complicated by recurrent acute rejection, leading to ductopenic rejection in one and recurrent hepatitis in the other. We reviewed the tissue samples histologically and immunohistochemically. Native livers showed submassive hepatocyte necrosis in one and cirrhotic liver with active hepatitis in the other, both with infiltration of CD8+ T cells accompanied by endothelialitis and bile duct damage; the intestine contained increased numbers of intraepithelial CD8+ T cells with apoptosis of epithelial cells. The liver allograft exhibited acute rejection, with prominent CD8+ T cells infiltrating the bile duct or endothelium. In the allograft following the diagnosis of post-transplant recurrent hepatitis, CD8+ T cells comprised the majority of infiltrating cells in portal areas spilling over into hepatic parenchyma. Our cases suggest that T cells contribute to the pathogenesis of CVID in native organs as well as allografts and may constitute evidence of T-cell deregulation in the pathogenesis of CVID.
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PMID:Liver transplantation for severe hepatitis in patients with common variable immunodeficiency. 2183 Dec 59