1/22. Increased spontaneous in vitro apoptosis in double negative T cells of humans with a fas/apo-1 mutation.We describe a 17 year old patient suffering from Canale-Smith syndrome (CSS) including chronic lymphadenopathy, splenomegaly, hypergammaglobulinemia and recurrent Coombs positive hemolytic crises. The parents are not consanguine, all other family members including two brothers are healthy. Peripheral blood mononuclear cells of the patient showed an increased rate of CD3 positive, CD4/CD8 double negative t-lymphocytes. in vitro assays showed these cells to have an increased rate of spontaneous apoptosis. Though expression of Fas/Apo-1 (CD95) and Fas-ligand (FasL) was detected on rna- and protein level we found Fas/Apo-1 mediated apoptosis being significantly reduced. Sequencing of the fas/apo-1 gene proved the patient RT and his father to carry a point mutation at position 804 located in exon 9 (death domain) leading to an amino acid substitution. For developing of CSS, a fas/apo-1 mutation seems to be necessary but not sufficient. An additional independent mechanism must be involved in the pathogenesis of human lpr<-phenotype.- - - - - - - - - - ranking = 1keywords = hypergammaglobulinemia (Clic here for more details about this article) |
2/22. Autoimmune pancreatitis, pancreatic mass, and lower gastrointestinal bleed.Autoimmune pancreatitis (AIMP) is a recently described clinical entity causing chronic pancreatitis. It often presents with diffuse enlargement of the pancreas and/or a focal mass at the head of the pancreas causing common bile duct obstruction and jaundice. In most instances, AIMP is mistaken for pancreatic cancer. A number of laboratory abnormalities such as positive antinuclear antibody, hypergammaglobulinemia, and antibody to carbonic anhydrase are often present in these patients. Currently, pancreatic biopsy demonstrating characteristic histopathologic changes is essential to establish the diagnosis. We report the first case of AIMP presenting as a pancreatic tail mass and lower gastrointestinal bleed.- - - - - - - - - - ranking = 1keywords = hypergammaglobulinemia (Clic here for more details about this article) |
3/22. Inflammatory pseudotumor of the submandibular gland: report of a case presenting with autoimmune disease-like clinical manifestations.We report a rare case of inflammatory pseudotumor arising in the submandibular gland, which presented with autoimmune disease-like clinical manifestations. A 70-year-old Japanese man developed masses in both submandibular regions. Laboratory tests revealed polyclonal hypergammaglobulinemia, high titers of antinuclear antibody, and a positive thyroid test. Histologically, the lesion was composed of multiple nodules separated by thick fibrous bands and contained a few atrophic lymphoid follicles and residual ductal structures. At higher magnification, the nodules contained numerous mature plasma cells mixed with myofibroblasts, lymphocytes, and histiocytes. Occasionally, the myofibroblasts were arranged in poorly formed fascicles and in a storiform pattern. polymerase chain reaction analysis failed to demonstrated the rearrangement of the immunoglobulin heavy-chain gene. The patient was free of disease after 72 months follow-up. Marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT) type arising from salivary glands occasionally showed prominent plasma cell differentiation. The present case indicates that inflammatory pseudotumor should be added to the list of different diagnoses for mucosa-associated lymphoid tissue-type lymphoma of the salivary glands.- - - - - - - - - - ranking = 1keywords = hypergammaglobulinemia (Clic here for more details about this article) |
4/22. pathology of autoimmune myelofibrosis. A report of three cases and a review of the literature.We identified 3 patients with autoimmune myelofibrosis (AM) lacking American Rheumatism association criteria for systemic lupus erythematosus (SLE). They had 1 or 2 cytopenias and lacked serologic evidence for SLE. Autoimmune features included psoriatic arthritis and positive direct coombs test (DCT) result, DCT-positive autoimmune hemolytic anemia, and synovitis with polyclonal hypergammaglobulinemia. bone marrow biopsy specimens from each patient were evaluated by routine morphologic and immunohistochemical examination. They demonstrated marked hypercellularity (2 cases) or hypocellularity (1 case), moderate erythroid hyperplasia (all cases) with left-shifted maturation (2 cases), intrasinusoidal hematopoiesis (all cases), slightly to moderately increased megakaryocytes (2 cases), and grade 3 to 4 reticulin fibrosis (all cases). All lacked basophilia, eosinophilia, bizarre megakaryocytes, clusters of megakaryocytes, and osteosclerosis. Mild to moderate bone marrow lymphocytosis was noted in all cases. In 2 cases, increased small T cells and B cells formed nonparatrabecular, loose aggregates. AM is a clinicopathologic entity that may lack features of SLE. Loose aggregates of bone marrow T and B lymphocytes and the absence of morphologic and clinical features of myeloproliferative disease or low-grade lymphoproliferative disease are clues that distinguish AM from better known causes of bone marrow fibrosis.- - - - - - - - - - ranking = 1keywords = hypergammaglobulinemia (Clic here for more details about this article) |
5/22. Bile duct involvement in a case of autoimmune pancreatitis successfully treated with an oral steroid.In the case reported here, the characteristic features of AIP were evaluated by ultrasonography, computed tomography and endoscopic retrograde cholangiopancreatography, initially in the intrahepatic- and extrahepatic bile ducts, and later in the pancreas. In addition, histological examination revealed lymphocytic sclerosis around the intralobular bile ducts, as is reported in AIP, without chronic nonsuppurative destructive cholangitis or onion-skin-like appearance. immunohistochemistry identified the infiltrating lymphocytes as T cells. Although hypergammaglobulinemia was observed with elevation of hepatobiliary and pancreatic enzymes, no other serological or physiological abnormalities suggestive of other systemic autoimmune diseases were detected. These findings progressed over a three-month period and were dramatically resolved within one month by steroid therapy. These observations support a novel clinical entity characterized by the presence of bile duct lesions similar to the pancreatic involvement seen in AIP that is distinct pathophysiologically, histologically, and therapeutically from the so-called autoimmune cholangitis or primary sclerosing cholangitis.- - - - - - - - - - ranking = 1keywords = hypergammaglobulinemia (Clic here for more details about this article) |
6/22. autoimmune lymphoproliferative syndrome presenting with glomerulonephritis.autoimmune lymphoproliferative syndrome (ALPS) is characterized clinically by chronic non-malignant lymphoproliferation and autoimmunity and is caused by a genetic defect in programmed cell death (apoptosis). Most patients with ALPS have heterozygous mutations in the Fas gene. We describe an 11-year-old Brazilian boy with hepatosplenomegaly, lymphadenopathy, hemolytic anemia, and hypergammaglobulinemia since early infancy. T cell lines from the patient were defective in Fas-mediated apoptosis. He was diagnosed as having ALPS and found to have a novel Fas gene mutation (IVS4 1G>A). In addition, he presented with glomerulonephritis in infancy. An aunt and uncle who had the same Fas mutations also had histories of glomerulonephritis. Although glomerulonephritis is common in Fas-deficient mice, it is infrequent in human ALPS. Corticosteroid therapy ameliorated the glomerulonephritis in our patient, as well as his lymphoproliferation, anemia, and hypergammaglobulinemia. This study suggests that glomerulonephritis is one of the characteristic features of ALPS.- - - - - - - - - - ranking = 2keywords = hypergammaglobulinemia (Clic here for more details about this article) |
7/22. Autoimmune pancreatitis presenting as a mass in the head of the pancreas: a diagnosis to differentiate from cancer.We report a case of autoimmune pancreatitis presenting as a mass in the head of the pancreas that was successfully diagnosed without pancreaticoduodenectomy. The patient was a 64-year-old man who had no complaint. A routine physical checkup unexpectedly revealed mild diabetes and a low-echoic mass in the pancreatic head. The diagnosis was made by noting irregular narrowing of the main pancreatic duct, hypergammaglobulinemia, and increased immunoglobulin g levels. An open wedge biopsy of the mass was performed; this showed a marked fibrosis with lymphocyte- or macrophage-predominant inflammatory infiltrates. Immunohistochemical study revealed that the remnant acinar cells expressed Fas (CD95) ligand and not Fas. We review some of the literature and discuss various features and diagnostic clues of autoimmune pancreatitis. awareness of this pathologic condition may prevent confusion with pancreatic malignancy and unnecessary surgery.- - - - - - - - - - ranking = 1keywords = hypergammaglobulinemia (Clic here for more details about this article) |
8/22. Autoimmune pancreatitis with effective steroid therapy.Autoimmune pancreatitis has recently been described as a clinical entity that causes chronic pancreatitis. This unique form of chronic pancreatitis is characterized by minimal attacks of abdominal pain, irregular narrowing of the pancreatic duct, and a diffuse enlargement of the pancreas. Autoimmune pancreatitis is associated with hypergammaglobulinemia. In addition, there is histological evidence of lymphoplasmacytic inflammation, the occasional coexistence of other autoimmune diseases, and has a favorable response to glucocorticoid treatment. Recently autoimmune pancreatitis has been increasingly reported particularly in japan. We report two patients with autoimmune pancreatitis who were treated successfully with corticosteroid therapy.- - - - - - - - - - ranking = 1keywords = hypergammaglobulinemia (Clic here for more details about this article) |
9/22. Epstein-Barr virus-related lymph node lesion resembling autoimmune disease-like clinicopathological findings in elderly patients. Report of three cases.Three cases of Epstein-Barr virus (EBV)-related lymphoproliferative disorders in elderly patients showing autoimmune disease-associated lymphadenopathy-like clinicopathological findings have been reported. Clinically, they were characterized by systemic lymphadenopathy, "B" symptoms, polyclonal hypergammaglobulinemia, elevated serum LDH and transient presence of various autoantibodies, and absence of atypical lymphocytosis in peripheral blood. One case was associated with idiopathic thrombocytopenic purpura. The clinical course was self-limiting. Histologically, they exhibited numerous lymphoid follicles with hyperplastic germinal centers and atypical interfollicular widening with prominent vascular proliferation. In the paracortical area, there was a mixed infiltrate comprising small to medium-sized lymphocytes and plasma cells, and variable numbers of eosinophils and T- and B-immunoblasts. in situ hybridization demonstrated a varying number of EBV-infected lymphocytes in the germinal center as well as in the interfollicular area. polymerase chain reaction demonstrated that neither clonal rearrangement of T-cell receptor gamma-gene nor immunoglobulin heavy-chain rearrangement was detected in two of the cases examined. Although acute EBV infection rarely occurs in older adults, EBV related to reactive lymphoproliferative disorder should be added to the differential diagnosis of autoimmune disease-associated lymphadenopathy and node-based peripheral T-cell lymphoma in elderly patients.- - - - - - - - - - ranking = 1keywords = hypergammaglobulinemia (Clic here for more details about this article) |
10/22. The autoimmune lymphoproliferative syndrome (Canale-Smith) in adulthood.The autoimmune lymphoproliferative syndrome (ALPS) or Canale-Smith syndrome is a recently described clinical entity consisting of chronic, non-malignant lymphadenopathy and hepatosplenomegaly together with hypergammaglobulinemia, positive autoantibodies and/or overt autoimmune diseases. It is caused by a genetic defect in the mechanism of programmed cell death (apoptosis) and is characterized by the presence of double-negative (TCR alpha/beta CD4- CD8-) T lymphocytes (DNT). Although well known in pediatric patients, ALPS is an unusual diagnosis in adults. The oldest reported patient was aged 54. We describe another two adult patients in whom a presenting autoimmune disease led to the diagnosis of ALPS.- - - - - - - - - - ranking = 1keywords = hypergammaglobulinemia (Clic here for more details about this article) |
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