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)

Mononuclear cell proliferative response to IL-2 and functional response to IL-4 is disturbed in IBD. The aim of the present study was to verify whether altered expression of the common gamma chain (gamma c) might contribute to this abnormality. The gamma c expression on peripheral blood mononuclear cells was analyzed by flow cytometry using a monoclonal antibody to gamma c. IL-4 binding in association with gamma c expression was assessed using biotinylated IL-4 in two-color flow cytometry. Mean fluorescence of gamma c expression was significantly decreased in active CD patients as compared to inactive CD and healthy controls (P < 0.05). Cell activation as a possible reason for gamma c down-regulation was confirmed using the in vitro stimulated donor cells. In the same system it was shown that down-regulation of gamma c is accompanied by decreased numbers of IL-4 binding cells. In conclusion, a decreased expression of the gamma c on peripheral blood mononuclear cells from CD patients with active disease might have an important pathogenetic significance in this chronic intestinal disorder.
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PMID:Expression of common gamma chain on peripheral blood mononuclear cells in Crohn's disease. 905 22

We report the case of a large natural killer (NK)-like T-cell lymphoma that involved the ileum and displayed a distinct immunophenotype and complex karyotype. The patient exhibited no evidence of gluten-sensitive enteropathy (celiac disease) or any other type of enteropathy as determined by clinical history, endoscopy, and serology for immunoglobulin A (IgA) antiendomysial and IgG antigliadin antibodies. Molecular studies demonstrated a clonal T-cell receptor gamma chain gene rearrangement. Immunophenotype analysis showed expression of intestinal epithelium-homing receptor CD103, CD7, cytoplasmic CD3 epsilon, CD56, and CD16 but no other T- or NK-cell markers. Cytogenetic analysis of the malignant cells revealed multiple chromosomal abnormalities indicative of a biologically advanced, high-grade lymphoma. A novel subset of normal intestinal intraepithelial lymphocytes, bearing a similar phenotype, has been described; moreover, this subset diminishes, rather than expands, in gluten-sensitive enteropathy. This case supports the notion that lymphomas involving the small intestine represent a heterogeneous group of lymphomas with diverse pathogenetic mechanisms.
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PMID:Natural killer-like T-cell lymphoma of the small intestine with a distinct immunophenotype and lack of association with gluten-sensitive enteropathy. 1265 3

In an attempt to better understand the clinicopathologic features of T- and natural killer (NK)/T-cell lymphomas in Taiwan and the distribution and relative frequency of each subtype according to the new WHO classification, the pathology file of a medical center in southern Taiwan during 1989-2002 was retrospectively searched. The results of light microscopy, immunohistochemistry, in situ hybridization for Epstein-Barr virus (EBER), and T-cell receptor (TCR)-gamma chain gene rearrangement were correlated with clinical findings. A total of 72 cases were identified. They were peripheral T-cell lymphoma, unspecified (PTLu; n = 23, 31.9%), NK/T-cell lymphoma (n = 14, 19.4%), anaplastic large cell lymphoma (n = 13, 18.0%), angioimmunoblastic T-cell lymphoma (AITL; n = 9, 12.5%), precursor T-lymphoblastic lymphoma (n = 8, 11.1%), enteropathy-type intestinal T-cell lymphoma (n = 2, 2.8%), adult T-cell leukemia/lymphoma (n = 2, 2.8%), and subcutaneous panniculitis-like T-cell lymphoma (n = 1, 1.4%). The male to female ratio was 1.5:1. Forty patients (55.6%) had extranodal presentation. Eleven cases including 9 of 14 (64.3%) NK/T-cell lymphomas expressed CD56. All 14 NK/T-cell lymphomas are EBER-positive. Seven of nine (77.8%) AITLs expressed CD10. The overall 5-year survival rate was 10.2%. In conclusion, we have characterized a large series of T- and NK/T-cell lymphomas in southern Taiwan, where there is male predominance and poor prognosis. CD56 is a specific but not very sensitive marker while EBER is most reliable for the diagnosis of NK/T-cell lymphoma. CD10 is a useful marker to differentiate AITL from PTLu.
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PMID:T-cell and NK/T-cell lymphomas in southern Taiwan: a study of 72 cases in a single institute. 1529 50

A 51-year-old woman was admitted to our hospital with tonsillar swelling. After tonsillectomy was performed, she was diagnosed as having CD56-positive T-cell lymphoma, mainly composed of small and medium-sized atypical cells. An immunohistochemical study showed that the malignant lymphocytes were positive for CD3, CD8, CD56, TIA-1 and granzyme B, while negative for CD20, CD5 and CD10. Flowcytometry demonstrated the lymphocytes were positive for CD56. Southern blot analysis revealed a rearrangement of the T-cell receptor gamma chain. The disease stage by Ann Arbor staging classification was II B. We provided MCEC therapy followed by autologous peripheral blood stem cell transplantation, and complete remission (CR) was achieved. Two months after CR, however, the patient relapsed with peritonitis due to perforation of an ileal tumor, and died of sepsis. It is rare for CD56-positive T-cell lymphoma to occur primarily in the tonsils. Because small bowel ulcers were revealed during the course of induction chemotherapy, we report a valuable case in which suspected CD56-positive enteropathy-type T-cell lymphoma (ETL) occurred primarily in the tonsils.
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PMID:[CD56-positive peripheral T-cell lymphoma primarily presenting with tonsillar swelling]. 1555 48

Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare inborn error of immune regulation characterized by the early onset of one or more autoimmune diseases in boys. IPEX is caused by mutations in FOXP3, and is thus the homologue of the scurfy mutant mouse. The gene product, Scurfin, is required for the development of CD4+CD25+ T regulatory cells. In the absence of T regulatory cells, activated CD4+ T cells instigate multi-organ damage resulting in type 1 diabetes, enteropathy, eczema, hypothyroidism, and other autoimmune disorders. While effective therapies are currently limited, studies in the scurfy mouse are revealing aspects of pathophysiology and genetics that will lead to novel approaches for treating IPEX and other autoimmune disorders. Females carrying Foxp3 mutations are unaffected. In new experiments we show that female scurfy mice that are also heterozygous in trans for the X-linked recessive common gamma chain knockout contract autoimmune disease, proving that murine Foxp3 is subject to X-inactivation and providing an example of gene-gene interaction causing autoimmune disease in females. One explanation for the lesser disease severity in these females is proposed.
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PMID:IPEX and FOXP3: clinical and research perspectives. 1624 87

The patient was a 73-year-old man diagnosed with low-grade B-cell lymphoma not otherwise specified based on a biopsy of the enlarged cervical lymph nodes. He remained untreated and was monitored during follow-up visits only. Progressive anemia developed after 5 years. Enteroscopy revealed stricture and ulcerative lesions involving the entire circumference of the middle section of the small intestine. Based on the biopsy results, he was diagnosed with enteropathy-associated T-cell lymphoma (EATL). Biopsy of an enlarged axillary lymph node simultaneously revealed Epstein-Barr virus-negative diffuse large B-cell lymphoma (DLBCL) and peripheral T-cell lymphoma not otherwise specified (PTCL, NOS) as well as rearrangement of immunoglobulin heavy-chain and T-cell receptor beta and gamma chain genes. These findings suggested that the axillary lymph node contained composite lymphoma comprising DLBCL and PTCL and that EATL represented a discordant lymphoma. The present case emphasizes the importance of re-biopsy and genetic analysis following an atypical clinical course.
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PMID:[Enteropathy-associated T-cell lymphoma coexisting with composite lymphoma composed of DLBCL and PTCL]. 3106 15