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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient had a rare association of celiac disease, keratoconjunctivitis sicca, and autoimmune thrombocytopenia. Both the malabsorption and the thrombocytopenia responded to prednisone therapy. The development of three different autoimmune disorders in this patient may be related to the presence of HLA-B8 and HLA-Dw3, the prevalence of which is known to be increased in celiac disease and keratoconjunctivitis sicca and that of HLA-B8 in autoimmune thrombocytopenic purpura. Despite the fact that thrombocytopenia is rarely encountered in celiac disease, it is suggested that an autoimmune mechanism should be excluded in patients with this combination.
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PMID:Celiac disease and keratoconjunctivitis. Occurrence with thrombocytopenic purpura. 720 Jul 63

The case of a 42-year-old-man with dissociated deficiency of immunoglobulins and intestinal malabsorption is presented. The gastrointestinal symptoms included post-prandial pains and steatorrhea. Histologic and immunohistochemistry studies of small intestinal biopsies revealed subtotal villous atrophy and absence of IgA producing plasma cells. The deficiency of immunoglobulins was total for IgA and moderate for IgM. IgG was increased. HLA B8 haplotype was present Gluten-free diet gave dramatic improvement in few days on clinic symptoms. Recovery of the villi was observed within three months. The cases reported in the published literature are reviewed and the physiopathologic hypothesis and nosology limits of the syndrome are discussed.
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PMID:[Intestinal malabsorption with a dissociated deficiency of immunoglobulins (author's transl)]. 729 93

Celiac disease is a fascinating illness, from both a clinical and research perspective. Most clinicians consider a diagnosis of celiac disease when a young patient has classic signs and symptoms of steatorrhea and severe malabsorption. However, the typical gastrointestinal symptoms often are absent. The patient may only have subtle signs of chronic malnutrition or nonspecific gastrointestinal complaints. Celiac disease is not diagnosed commonly in the United States, at least in part because of a low clinical index of suspicion. A diagnosis of celiac disease is confirmed by a small bowel mucosa biopsy. A dramatic clinical response to a gluten-free diet verifies the diagnosis, and provides a cost-effective treatment free of significant side effects. Strict adherence to the prescribed diet usually results in a complete resolution of the symptoms and mucosal histopathologic changes. The serious, long-term complication of intestinal lymphoma also may be prevented. To the clinical investigator, celiac disease is an important model of the HLA-associated immune-mediated illnesses. A specific HLA-DQ heterodimer is found in 95% of patients, representing perhaps the strongest association of any illness with a specific class II HLA molecule. In addition, an important environmental trigger (gluten) has been identified, providing a unique opportunity to study the interaction of gene products and environmental factors in the pathogenesis of an immune-mediated disease.
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PMID:Celiac disease: clinical features and pathogenesis. 816 Jul 11

The polyglandular autoimmune syndromes (PGA) are well known and are distinguished into type I, type II and type III. PGAI, also called APECED (autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy), is an autosomal recessive disorder, appearing in childhood and typically characterized by hypoparathyroidism (unusual in PGAII and PGAIII) and adrenal insufficiency. In APECED, autoimmune destruction of the pancreatic beta cells with development of insulin-dependent type 1 diabetes is possible, but less frequent than in the other PGAs, especially PGAII. The pathogenesis of this unique autoimmune disease is unknown. No HLA association seems to exist and genetic studies have assigned the autosomal APECED locus to chromosome 21. The case of a 28-years-old female suggesting the diagnosis of APECED, is presented, characterized by psycho-somatic abnormal development, teeth alterations, post-puberal gonadal failure with dystrophic hypoplasia of external genitalia, previous vaginal candidiasis, a slowly developing juvenile brittle diabetes. Intestinal malabsorption induced by Giardia lamblia occurred (probably resulting, like candidiasis, from immunological anergy). A strong familiarity linked to female sex was noticed (the mother, a sister, the little nice and some maternal female cousins being affected) while the father and a brother were healthy. Diabetes seems to be characterized by early onset and severe complications. In this patient no organo-specific antibodies were detected and the only immunologic disorder was a small decrease of CD3 and CD4/CD8 ratio, both CD4 and CD8 being at the lower normal range. This patient (and her female maternal relatives) needs a long-term follow-up in order to evaluate the function of endocrine glands and to initiate early treatment for hormonal deficits, as well as to detect the non-endocrine components of disease.
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PMID:[A rare case of juvenile diabetes mellitus associated with APECED (autoimmune poly-endocrinopathy, candidiasis and ectodermal dystrophy) with strong X-linked familial inheritance]. 930 48

Celiac disease (CD), a malabsorption disorder of the small intestine, results from ingestion of gluten. The HLA risk factors involved in CD are well known but do not explain the entire genetic susceptibility. To determine the localization of other genetic risk factors, a systematic screening of the genome has been undertaken. The typing information of 281 markers on 110 affected sib pairs and their parents was used to test linkage. Systematic linkage analysis was first performed on 39 pairs in which both sibs had a symptomatic form of CD. Replication of the regions of interest was then carried out on 71 pairs in which one sib had a symptomatic form and the other a silent form of CD. In addition to the HLA loci, our study suggests that a risk factor in 5qter is involved in both forms of CD (symptomatic and silent). Furthermore, a factor on 11qter possibly differentiates the two forms. In contrast, none of the regions recently published was confirmed by the present screening.
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PMID:Genome search in celiac disease. 949 51

Dyskeratosis congenita (DC) is a rare inherited disorder often associated with aplastic anaemia. We report the cases of five boys transplanted with an HLA-identical related donor for severe aplastic anaemia (SAA) associated to DC; in all cases successful engraftment was observed. Three patients died 2-8 years after bone marrow transplantation (BMT) with signs of endothelial cell damage syndrome (kidney microangiopathy and liver veno-occlusive disease). Another boy died 1 year after BMT from Evans syndrome and invasive aspergillosis. One boy currently presents anaemia, polyarthritis of unknown origin, pulmonary fibrosis and gut malabsorption 7.5 years after BMT. SAA associated with DC can be successfully treated by allogeneic BMT. However, these early and late complications observed are very unusual after BMT and probably reflect the association of transplanted-related factors, evolution of the underlying disease, and increased sensitivity of endothelial cells. Modified conditioning approaches, advances in supportive care and surveillance of these unusual complications offer the possibility of improved outcome for these patients.
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PMID:Unusual complications after bone marrow transplantation for dyskeratosis congenita. 979 16

Coeliac disease, a life-long gluten-sensitive disorder, characterized by malabsorption, villous atrophy and crypt hyperplasia, is well recognized. However, the disease is evidently underdiagnosed, and the classic forms constitute only the tip of the 'coeliac iceberg'. Patients with coeliac disease can have subtle symptoms, if any. Diagnostic difficulties may further emerge when minor mucosal changes are found. In coeliac screening and case-finding a novel test, the antitissue transglutaminase test, has proven promising with a sensitivity and specificity of over 95 %. Genetic and immunohistological research has taken a great leap forward. Coeliac disease is strongly associated with HLA-DQ2, coded by the DQA1*0501 and DQB1*02 alleles, or the DQ8 (DQA1*03, DQB1*0302 alleles). The disease is rare in patients who do not share these alleles, a circumstance which can be utilized in diagnostics. An increase in small bowel intraepithelial lymphocytes especially gammadelta+ T-cell receptor-bearing cells is typical, albeit not pathognomonic, for coeliac disease. Combining new symptoms, humoral immunity, genetics and immunohistological staining can today offer a greater diagnostic scope for coeliac disease, especially in cases where clinical presentation and small bowel biopsy findings remain doubtful.
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PMID:New diagnostic findings in coeliac disease. 1068 Aug 54

Coeliac disease is a permanent intolerance to wheat gliadins and related prolamines. Patients who have an obvious malabsorption syndrome form only a small minority of the total number of people with coeliac disease. There are, in fact, no pathognomonic clinical features, and the condition is defined and diagnosed by the presence of pathological changes in the small bowel mucosa related to the presence of toxic prolamines. Susceptibility to coeliac disease is determined to a significant extent by genetic factors. A large part of the genetic susceptibility maps to the HLA region on chromosome 6, as approximately 95% of coeliac disease patients carry an almost identical HLA DQ2/heterodimer; a role of non-HLA genes has also been postulated. From a pathogenetic point of view, most evidence supports the notion of a DQ-restricted gluten-specific Th1 response in the lamina propria; nonetheless, it is possible that, in coeliac subjects, gluten, prior to T cell activation, could exert a direct toxic effect leading to the production of proinflammatory signals.
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PMID:Coeliac disease in the year 2000. 1073 May 70

Our knowledge of celiac disease pathogenesis has recently made rapid progress. The disorder is now considered the result of a complex interplay of intrinsic (genetic) and variable extrinsic (environmental) factors that explain the wide spectrum of clinical manifestations ranging from asymptomatic to severe malabsorption. Gluten peptides are efficiently presented by celiac disease-specific HLA-DQ2- and HLA-DQ8-positive antigen-presenting cells, and thus drive the immune response, predominantly in the connective tissue of the lamina propria. Tissue transglutaminase, which has been identified as the highly specific endomysial autoantigen, is released from cells during inflammation. It may potentiate antigen presentation by HLA-DQ2 and HLA-DQ8 by deamidating or cross-linking gluten peptides. The result is lamina propria T-cell activation and mucosal transformation by activated intestinal fibroblasts. In the future, manipulation of the gut-associated lymphoid tissue may allow reduced sensitivity or even generate oral tolerance to gluten. Long-standing untreated celiac disease, even if clinically silent, predisposes for other autoimmune diseases. Therefore, population screening for immunoglobulin A antibodies to tissue transglutaminase seems justified.
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PMID:Current concepts of celiac disease pathogenesis. 1127 52

Celiac disease (CD) is a small intestinal disorder with overt malabsorption in the minority and with subclinical or atypical symptoms in the majority of patients. It is triggered by gluten and related cereal proteins in a unique genetic background (HLA-DQ2 or DQ8 and other unmapped genes). CD is characterized by a highly specific mucosal autoantibody response to tissue transglutaminase. In the intestine this enzyme creates antigenic neoepitopes in gluten peptides which are more efficiently presented to the immune system in the context of HLA-DQ2 or DQ8. Between 3% and 6% of patients with type 1 diabetes mellitus (DM) have (atypical) CD, and the prevalence of a variety of autoimmune diseases in patients with CD correlates with the time of gluten exposure, reaching 35% after 20 years. It is still unknown whether oligosymptomatic CD favors the development of type 1 DM and whether a gluten-free diet modifies the progression of DM in general. Apart from shared or adjacent HLA loci in both diseases, post-translational modification of potential autoantigens by enzymes such as tissue transglutaminase could play a role in the autoimmunity of type 1 DM.
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PMID:Celiac disease and its link to type 1 diabetes mellitus. 1139 50


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