Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004364 (autoimmune disease)
 24,845 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe three persons in one family with diffuse lung infiltrates, digital clubbing, and chronic hypoxia. Elevated immunoglobulin levels and antinuclear antibodies were found in all patients; pathologic findings included hyperplastic lymphoid follicles infiltrating the epithelium of the small airways. These cases may represent a familial systemic autoimmune disorder seen primarily with pulmonary compromise.
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PMID:Familial pulmonary nodular lymphoid hyperplasia. 162

Coeliac disease is an autoimmune disorder of the small bowel that occurs in genetically predisposed people of all ages from middle infancy. Most common period of presentation is between six month and two years of age. Coeliac disease is caused by a reaction to gliadin, a gluten protein found in wheat. Upon exposure to gliadin, the enzyme tissue transglutaminase modifies the protein and the immune system cross reacts with the bowel tissue, causing an inflammatory reaction that leads to flattening of the lining of the small intestine, which interferes with the absorption of nutrient's. Here we describe the case of Ibrahim age 12 years was admitted in BSMMU on 9th February 2008. He had loose mucoid stool, abdominal distension, bloating and history of loss of weight for two years. He was malnourished moderately pale with clubbing. His weight and height was far below the standard for the age. Along with the routine examinations foecal fat estimation, MT, USG of whole abdomen, Barium follow through, endoscopic biopsy and tissue transglutaminage IgA autoantibody was done. Histopathological report was in favour of immunoproliferative small intestinal disease. Tissue transglutaminage IgA autoantibody was in higher level though done in a gluten free state. Wheat and food made by wheat was totally withdrawn then gradually the patient improved. Symptoms of diarrhoea, abdominal distention and bloatedness gradually decreased. For patients presenting with alteration of bowel habit, abdominal distension, bloating and history of weight loss for long time, the importance of considering coeliac diseases as a differential diagnosis cannot be overemphasized.
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PMID:Coeliac disease. 1937 24

Palmar fasciitis and polyarthritis syndrome is a rare paraneoplastic syndrome that has been reported mainly for ovarian cancers. It is thought to be a tumour-associated autoimmune disorder. It is associated with polyarthritis and rapid flexion contractures of hands with palmar nodules due to palmar fasciitis. Similar paraneoplastic features in gastric cancers have seldom been reported. Here, I am reporting a case of paraneoplastic syndrome of metastatic gastric adenocarcinoma with polyarthritis of hands and contractures of multiple joints with asymmetric clubbing (right hand more than left hand) and hyperpigmentation over back of hands and fingers. Hyperpigmentation and asymmetric clubbing have not been reported in literature in palmar fasciitis and polyarthritis syndrome.
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PMID:Paraneoplastic palmar fasciitis and polyarthritis syndrome. 1975 66

A 43-year-old male presented with shortness of breath and palpitations. Physical examination was significant for skin lichenification, an erythematous maculopapular rash with annular plaques, a fissured tongue, and digital clubbing. Electrocardiogram captured a supraventricular tachycardia and right bundle branch block. Left heart catheterization found several proximal left coronary artery branch aneurysms, a right coronary-pulmonary artery fistula, venous-luminal vessels between the right heart chambers and cardiac veins, and thebesian venous lakes. Functional cardiac capacity was reduced, with left ventricular ejection fraction of 35 to 40%, on ventriculogram. A diagnosis of discoid lupus erythematosus was established after skin biopsies revealed systemic lupus erythematosus-like features but negative anti-nuclear, anti-Smith, anti-ds-deoxyribonucleic acid, anti-Ro, and anti-La antibodies. The case reported is unique, in that while our patient had pathologic electrophysiologic changes typically seen with autoimmune disease, the patient had many anatomical cardiac anomalies without atherosclerotic coronary disease. It is uncertain whether these findings are purely incidental or are related to an underlying genetic disorder.
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PMID:Uncommon Coronary Abnormalities in a Patient with Discoid Lupus Erythematosus. 3326 78