1/31. celiac disease associated with familial chronic urticaria and thyroid autoimmunity in a child.An 11-year-old girl presented with chronic urticaria (CU), antithyroid antibodies, and anemia. celiac disease was diagnosed. The family history was positive for maternally derived CU and thyroid autoimmunity in three generations. Human leukocyte antigen typing disclosed human leukocyte antigen DQA1*0501 DQB1*0201 in both mother and child. CU was unresponsive to a gluten-free diet despite clinical and laboratory resolution of celiac disease in contrast to previous reports in adults. We believe that this is the first report of this association in a child, highlighting that CU may be a part of the spectrum of autoimmune phenomenon related to celiac disease.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/31. Refractory sprue syndrome with clonal intraepithelial lymphocytes evolving into overt enteropathy-type intestinal T-cell lymphoma.INTRODUCTION: Recently, patients with refractory sprue have been shown to contain a clonal proliferation of phenotypically abnormal intraepithelial lymphocytes in their intestine. Whether this signifies early enteropathy-type intestinal T-cell lymphoma (EITCL) or a reactive condition is not clear. We report on a patient presenting with the findings of refractory sprue who subsequently developed overt EITCL. MATERIAL AND methods: Duodenal biopsies from 1997 (refractory sprue) and duodenal and jejunal biopsies from 1998 (intestinal T-cell lymphoma) were compared by immunohistochemistry and PCR for the detection of T-cell receptor (TCR)-gamma gene rearrangements. Clonal PCR products were sequenced. RESULTS: The duodenal biopsies from both 1997 and 1998 and the jejunal tumor biopsy showed villus atrophy and an increase of intraepithelial lymphocytes with an abnormal immunophenotype (CD3 , CD4-, CD8- and TCR-beta-). In all duodenal specimens including the one from 1997, and the jenunal tumor biopsy, an identical clonal amplificate was detected by enzymatic amplification of the TCR-gamma gene. CONCLUSION: These data suggest that refractory sprue containing a clonal proliferation of phenotypically abnormal intraepithelial lymphocytes may represent an early manifestation of EITCL. The detection of immunohistochemical negativity for several antigens normally found on intraepithelial lymphocytes such as CD8 or the TCR-beta chain in combination with clonal T-cell populations by PCR may be helpful in identifying refractory sprue with a malignant transformation.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
3/31. Tissue transglutaminase autoantibodies in patients with non-Hodgkin's lymphoma. case reports.BACKGROUND: Tissue transglutaminase (tTG) has recently been identified as the autoantigen recognized by endomysial antibodies in celiac disease (CD) patients and this has permitted the use of an ELISA test to detect the presence in the serum of autoantibodies specific for the diagnosis of CD. AIM: We report two cases of anti-tTG positivity in patients with non-Hodgkin's lymphoma (NHL) without evidence of CD. case reports: Both patients were males aged 67 and 69 years respectively; both were hospitalized for fever and peripheral adenopathy. Lymph node histology showed an immunoblastic high-grade T-cell NHL at the IVth the stage of disease in both cases. They were included in a multicenter study on the association between CD and NHL. Serological screening for CD showed the presence of serum anti-tTG antibodies, with values within the range of those recorded in untreated CD patients in our laboratory; however, both patients had negative anti-endomysial antibodies and in both cases intestinal histology showed normal mucosa with villi and crypts of normal height and depth (villi/crypts ratio > or = 2.5, within the range of normal subjects for our laboratory), and no increase in intraepithelial lymphocytes. The HLA phenotype was obtained giving the following antigens: Case 1: A 3, A 24(9), B 22, B 35, BW 6, DR 1, DR 11(5), DQ 3, DR 52. Case 2: A 2, A 3, B 51(5), B 8, BW 4, BW 6, DR B1*02, DR B1*03, DR B3*01. Both subjects were also positive for serum anti-smooth muscle antibodies and one for antinuclear antibodies. CONCLUSIONS: (1) serum anti-tTG positivity can be found in subjects with NHL without CD and the real frequency of these 'false positives' must be investigated both in subjects with lymphoproliferative disorders and in patients with autoimmune diseases. (2) In patients with NHL, without CD, anti-tTG positivity may be unassociated with EmA positivity and the biological significance of this finding must be clarified.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
4/31. common variable immunodeficiency, insulin-dependent diabetes mellitus and celiac disease.common variable immunodeficiency is a disorder characterised by hypogammaglobulinemia with b-lymphocytes in peripheral blood and repeated infections. We report a child with a diagnosis of diabetes mellitus and celiac disease during lactation, and in whom common variable immunodeficiency was diagnosed at the age of 5. During evolution of the disease he presented multiple respiratory infections in spite of substitution therapy with gamma globulins. He presented pulmonary fibrosis with a pulmonary volume reduced, and a spirometric restrictive patron. Immunologically, he presents reduction in CD4 lymphoid population. He expresses the alleles DQ2 A1 0501 and B1 which are strongly associated with susceptibility to insulin-dependent diabetes mellitus and celiac disease, but don't express antigens HLA class II DR3 and DR4 that are more frequent in these entities. The main disease and all the complications had affected his curve pondostatural.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
5/31. Macroamylasemia attributable to gluten-related amylase autoantibodies: a case report.BACKGROUND: Macroamylasemia (MA) is a benign condition caused by circulating macroamylase complexes of pancreatic or salivary amylase bound to plasma proteins, which cannot be cleared by the renal glomeruli. In most cases, the macromolecular amylase represents a complex of normal amylase and either immunoglobulin a or G and may be a specific antigen-antibody complex. celiac disease (CD) is a permanent intolerance to ingested gluten that results in immunologically mediated inflammatory damage of the small intestinal mucosa. Several recent population-based serologic surveys have shown CD to be a common disorder, possibly affecting 1 in 200 to 250 individuals in most countries studied, including the united states, where overt CD is rare, indicating a high proportion of subclinical disease. The diagnosis of CD currently rests on the histological demonstration of the characteristic lesion in the small intestine and the subsequent clinical response to the introduction of a gluten-free diet. MA associated with CD has been described in adult patients, and in a few cases, MA decreased or resolved after a strict gluten-free diet. A few single cases of MA have been described in childhood, but no association with CD has been reported so far. We report a girl with CD, autoimmune thyroiditis, and MA, in whom CD-related antibodies to amylase and to exocrine pancreas tissue resolved with a gluten-free diet. CASE REPORT: An 11-year-old girl was referred for chronic abdominal pain and growth retardation associated with persistent hyperamylasemia and suspected chronic pancreatitis. We confirmed elevated serum amylase, normal serum lipase, and very low 24-hour urine amylase and amylase clearance/creatinine clearance ratio, consistent with MA. serologic tests for CD were positive, and the diagnosis was confirmed by small bowel biopsy showing subtotal villous atrophy. thyroid function tests showed a pronounced hypothyroidism, associated with high titers of thyroid microsomal and thyroglobulin antibodies. Screening for other autoantibodies-including antinuclear, islet cell, glutamic acid decarboxylase, protein tyrosine phosphatase islet antigen 512, adrenal gland, and cytoplasmic neutrophil granulocyte antibodies-was negative. A diagnosis of CD, MA, and hypothyroidism attributable to autoimmune thyroiditis was made. A gluten-free diet and oral replacement with L-thyroxine was started with clinical improvement. serum amylase and amylase clearance/creatinine clearance ratio normalized, consistent with resolution of MA. STUDY DESIGN AND methods: The patient's serum samples were obtained at the time of CD diagnosis and at 3 and 12 months after instituting a gluten-free diet. serum samples from 10 consecutive untreated celiac children were disease controls, and 39 participants with no gastrointestinal symptoms and no family history of CD served as healthy controls. The origin of MA as determined by complexes of amylase with circulating immunoglobulins was tested by the measurement of amylase on supernatants after precipitation of immune complexes with either protein A sepharose or polyethylene glycol. The precipitation of >60% of amylase activity was consistent with the presence of MA. immunoglobulin g (IgG) and immunoglobulin a (IgA) circulating autoantibodies to amylase were measured using recently developed enzyme-linked immunosorbent assay (ELISA), using porcine amylase as antigen. Results were expressed as arbitrary units (AUs). Statistical analysis was performed by Student's t test for unpaired data. IgA and IgG antibodies to exocrine pancreas tissue were detected by indirect immunofluorescence on human pancreas cryosections. RESULTS: serum immunoprecipitation with either protein A sepharose or polyethylene glycol reduced amylase activity from 1698 to 89 U/L (94.8%) and to 75 U/L (95.6%), with only marginal reduction in control serum samples. The ELISA for autoantibodies to amylase detected high values, both IgA (3531 AU) and IgG (1855 AU), in the serum sample from the patient at CD diagnosis. IgA autoantibodies (mean /- standard deviation) were 3.4 /- 2.5 AU in healthy controls, and 2.1 /- 1.2 AU in celiac controls; IgG autoantibodies were 10 /- 4.8 AU in healthy controls and 8.5 /- 3.2 AU, respectively. autoantibodies to exocrine pancreas tissue were documented in patient sera at the time of CD diagnosis, both IgA and IgG, but not in control groups. Preincubation of patient's serum with excess of alpha-amylase specifically inhibited antibody binding to coated amylase in the ELISA, and partially inhibited immunoreactivity to exocrine pancreas. autoantibodies to alpha-amylase and to exocrine pancreas declined in CD patients after institution of a gluten-free diet. CONCLUSIONS: Few cases of MA have been described in children, and in all amylase determination was part of the clinical investigation for abdominal pain or trauma. (ABSTRACT TRUNCATED)- - - - - - - - - - ranking = 1.5keywords = antigen (Clic here for more details about this article) |
6/31. helicobacter pylori-negative gastric ulcerations associated with celiac disease at first presentation.Ulcers of the small bowel have repeatedly been described as a late complication of celiac disease and they are considered a signum mali ominis. We report a case of a 53-year-old woman presenting with diarrhea, epigastric pain and abdominal distensions for a period of few weeks. At upper GI endoscopy, biopsies were taken showing complete atrophy of the villi and colonization of the small bowel mucosa. Additionally, uncommon multilocular peptic ulcers were seen in the gastric antrum. These ulcers proved to be helicobacter pylori-negative with no evidence of zollinger-ellison syndrome. Biopsies of gastric ulcers showed signs of a lymphocytic gastritis with an extensive infiltration of the lamina propria by almost exclusively CD3- and CD45R0-positive t-lymphocytes. Intraepithelial t-lymphocytes were found to be increased in the antral as well as the corpus mucosa. Typing the patient for human leukocyte antigens showed a DQA1*0501 and DQB1*0201 phenotype. According to the present report, gastric peptic ulcers seem to be another phenomenon associated with celiac disease. In the case presented here, ulcers were diagnosed together with celiac disease already at first presentation of the patient.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
7/31. A new autoantibody in celiac disease.A 74-year-old female patient with therapy-resistant sprue (celiac disease) and a new IgA autoantibody is presented. This autoantibody was demonstrated by immunofluorescence and differs from the conventional antibody against type 3 connective tissue (so-called endomysium antibody). It reacts predominantly with the muscularis and less strongly with the muscularis mucosae of the monkey esophagus. The reaction is not retiform but punctiform; the typical reaction sites of the antibody against type 3 connective tissue are negative. Especially on esophageal sections the antibody can be mistaken for the characteristic antibody directed against tissue transglutaminase, in particular at low magnification. The antigen of the new antibody is as yet unknown.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
8/31. Celiac sprue.Celiac sprue, celiac disease, or gluten-sensitive enteropathy, is a malabsorption disorder of the small intestine that occurs after ingestion of wheat gluten in genetically susceptible individuals. This disease is characterized by intestinal malabsorption associated with villous atrophy of the small intestinal mucosa, clinical and histological improvement after adherence to strict gluten free diet, and relapse when gluten is reintroduced. Celiac sprue has a high prevalence in Western europe and north america where it is estimated to affect 1:120 to 1:300 individuals. The pathogenesis of celiac sprue is related to inappropriate intestinal T-cell activation in HLA-DQ2 positive individuals triggered by antigenic peptides from wheat gluten or prolamins from barley and rye. Although previously thought to be mainly a disease of childhood onset, the diagnosis is increasingly being made in adults. There are a wide variety of presentations, which range from asymptomatic forms to severe diarrhea, weight loss and nutritional deficiencies. Extraintestinal manifestations including anemia, osteopenia or neurological disorders and associated conditions such as diabetes or hypothyroidism are commonly present. The availability of highly sensitive and specific serologic markers has dramatically facilitated the diagnosis of celiac sprue. However, the demonstration of characteristic histological abnormalities in a biopsy specimen of the small intestine remains the mainstay of diagnosis. Treatment consists of life-long avoidance of dietary gluten to control symptoms and to prevent both immediate and long-term complications.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
9/31. factor xiii and tissue transglutaminase antibodies in coeliac and inflammatory bowel disease.Tissue transglutaminase (tTg) has been identified as an autoantigen in coeliac disease (CD). There is a marked homology between different forms of transglutaminase, such as tTg and coagulation factor xiii. We compared titres of both IgA- and IgG-antibodies against these two antigens in 20 CD patients, 20 endomysial antibody (EMA)-negative controls and a group with inflammatory bowel disease (34 with Crohn's disease and 23 with ulcerative colitis). IgA-antibodies against tTg correlated with EMA titres and had high sensitivity and specificity in screening for CD. Only in two CD patients were high titres found of IgA-antibodies against factor xiii, non-reactive with tTg. Both lacked bleeding tendency. The presence of IgG-antibodies against tTg, in contrast, had low sensitivity and specificity in screening for CD and were frequently seen in inflammatory bowel disease. Similarly, factor xiii IgG-antibodies displayed a non-specific pattern with modestly elevated titres in patients with Crohn's disease and in both EMA-negative and positive patients. Despite a marked homology with tTg, the occurrence of high titre IgA-antibodies against factor xiii is infrequent in CD, but may-when present-be the result of epitope spreading. The presence of IgG-antibodies in CD and inflammatory bowel disease illustrates the complexity of autoantibody reactions in gastrointestinal disease.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
10/31. Coeliac disease with farmers' lung.Two patients with allergic alveolitis due to mouldy hay antigens (farmer's lung) were shown to have malabsorption due to coeliac disease. As similar associations have been found with other alveolar diseases, this association is probably not fortuitous and further population screening should be done.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
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