1/8. Autoimmune hemolytic anemia in a patient with autosomal dominant chronic mucocutaneous candidiasis.Chronic mucocutaneous candidiasis is a heterogeneous immunodeficiency syndrome characterized by recurrent candidal infections of the skin, nails, and mucous membranes. The syndrome can be associated with autoimmune conditions, especially endocrine disorders. Typically, inheritance is autosomal recessive, and abnormal T-cell-mediated immunity is thought to be the underlying deficit. We describe a 27-year-old man with chronic mucocutaneous candidiasis inherited in an autosomal dominant fashion, in whom both lymphocyte blastogenesis and delayed-type skin reactivity to candida antigens were normal. Notable features of the case include autoimmune hemolytic anemia, probable hypoparathyroidism, and hypogonadal hypogonadism.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/8. The polyglandular deficiency syndrome: a new variant in Persian jews.Five Persian jews were detected with the polyglandular deficiency syndrome (PDS). Primary hypoparathyroidism and hypogonadism were present in each, adrenal insufficiency in two, and insulin-dependent diabetes mellitus and latent hypothyroidism in single subjects. The percentage of T and B cells, and the mononuclear cell response to phytohemagglutinin and concanavalin a were normal in all five. IgG and IgA levels and the OKT4 /OKT8 cell ratio were low in one subject. Antinuclear and antithyroid antibodies were present in one subject. HLA-DR5 was present in 4/4, HLA-24 and B5 (B51) in 3/4 subjects. A single case of isolated hypoparathyroidism (IHP) was detected among 12 first degree relatives. hla antigens B8, DR3, were absent in all of these subjects. Seven non-Iranian jews with IHP were also examined. HLA A26 or A25 were present in all seven. Persian jews appear to have a unique variant of PDS.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
3/8. Familial idiopathic hypoparathyroidism and progressive sensorineural deafness.Three cases from two families with idiopathic hypoparathyroidism and progressive sensorineural deafness are described. Cases 1 and 2 were siblings. Case 3 was one of four siblings from another family. All of them had both idiopathic hypoparathyroidism and progressive sensorineural hearing loss. There was no evidence to suggest involvement of autoimmune mechanism in these cases except for the associated Graves' hyperthyroidism in case 3. Human leukocyte antigen A9 and A11 were positive in both families. The sensorineural hearing loss was progressive even after the treatment for hypoparathyroidism. As the familial idiopathic hypoparathyroidism is a very rare entity, it is unlikely that this disease is associated with familial progressive sensorineural deafness by chance. The combination of these two diseases may compose a new syndrome.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
4/8. Case report: idiopathic hypoparathyroidism co-existing with celiac disease: immunologic studies.Idiopathic hypoparathyroidism (IH) is often an isolated disorder in adults, but in children it is usually a component of the autoimmune polyendocrinopathy syndrome. The authors describe a patient diagnosed with isolated IH at age 57 and celiac disease at age 64. Testing of patients' serum show antibodies of the immunoglobulin a isotype against endomysium, reticulin, and gliadin antigens, as well as immunoglobulin g against gliadin. The circulating immunoglobulins reacted with bovine parathyroid tissue, specifically smooth muscle of the blood vessels and glandular cells, as detected by indirect immunofluorescence. Testing of celiac disease positive sera showed similar parathyroid reactivity. When the patient was placed on a gluten-free diet, endomysial, reticulin, and gliadin antibodies decreased to undetectable levels, which was parallel with disappearance of the parathyroid immunoreactivity. The gluten-free diet also produced severe hypercalcemia that responded to calcitriol withdrawal, and ultimately required a reduction by half of the original calcitriol dose. It is possible that in this case the same antibody or antibodies may have caused both hypoparathyroidism and celiac disease. We conclude that, as in the case of childhood-onset IH variants, patients with late-onset isolated IH should be monitored for additional endocrine and extra-endocrine autoimmune disorders.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
5/8. hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with kearns-sayre syndrome harbouring a mitochondrial dna deletion.We report a 17-year-old girl with short stature, external ophthalmoplegia, atypical retinal pigmentary degeneration, sensorineural hearing loss, and cardiac conduction defect (kearns-sayre syndrome). A large-scale deletion (6741 base pairs) in mitochondrial dna was found in her muscle specimen. She also had insulin-dependent diabetes mellitus (IDDM). On admission, her plasma glucose level was elevated at 31.0mmol/l with mild ketoacidosis, and haemoglobinA1c elevated at 16.5%. After improvement of diabetic ketoacidosis, she was placed on insulin 24-30 units/day despite her small body weight of 25 kg. There was reduced excretion of urinary c-peptide at 3.97 nmol/day. In addition, she had idiopathic hypoparathyroidism with a serum calcium level of 2.15 mmol/l, phosphate 1.7 mmol/l, and intact PTH below 10 ng/l. Human leucocyte associated antigen typing showed A24, A26; B54, B61; CW1, CW3; DR8, DR14; DQ1 and DQ3, suggesting that the presence of HLA-A24 and CW3 antigen contributed to the association of IDDM and hypoparathyroidism, similar to Japanese patients with polyglandular autoimmune syndrome, complicated by hypoparathyroidism and IDDM. We suggest that a genetic linkage, as well as mitochondrial dysfunction, may be responsible for the association of the two disease states. This is an extremely rare case of kearns-sayre syndrome, presenting in association with IDDM and idiopathic hypoparathyroidism.- - - - - - - - - - ranking = 2keywords = antigen (Clic here for more details about this article) |
6/8. celiac disease and hypoparathyroidism: cross-reaction of endomysial antibodies with parathyroid tissue.celiac disease (CD) is a gluten-sensitive enteropathy characterized by the presence of serum antibodies to endomysial reticulin and gliadin antigens. CD has been associated with various autoimmune endocrine disorders, such as diabetes. We report a rare case of idiopathic hypoparathyroidism with coexistent CD characterized by the presence of serum autoantibodies. Studies were conducted to determine the specificities of these autoantibodies and to localize the antibody binding sites by indirect immunofluorescence and immunoelectron microscopy. Sera from a patient with idiopathic hypoparathyroidism and CD and from two patients with CD alone were tested by indirect immunofluorescence for autoantibodies to parathyroid and endomysial antigens. The specificities of the antibody reactions were determined by testing the sera before and after absorption with monkey stomach tissue. In addition, immunoelectron microscopic studies were performed to determine the localization of the endomysial antigen. Indirect-immunofluorescence studies on the patient's serum were positive with the parathyroid as well as the endomysial substrate. Similar reactions were also observed with the sera of endomysial antibody-positive patients with CD. absorption of the sera with monkey stomach powder, which is known to have the endomysial antigen, abolished the antibody activities on both the endomysial substrate and the parathyroid tissue. Immunoelectron microscopic studies showed that endomysial antibody activity was associated with antigens localized on the myocyte plasma membrane and in the intercellular spaces. Thus, reactions of the patient's serum with the parathyroid tissue were due to endomysial antibodies and were not parathyroid specific as in patients with idiopathic hypoparathyroidism who did not have coexistent CD. In conclusion, indirect-immunofluorescence tests on parathyroid tissue detect not only tissue-specific antibodies but also cross-reactive antibodies, and this should be taken into consideration when these tests are performed.- - - - - - - - - - ranking = 5keywords = antigen (Clic here for more details about this article) |
7/8. Idiopathic hypoparathyroidism with fungal seminal vesiculitis.A 23-year-old man was suffering from high fever and general fatigue 6 months before admission. The levels of serum Ca and intact-parathyroid hormone (PTH) were low. His brain computed tomography (CT) revealed marked calcifications of the basal ganglia, and pelvis magnetic resonance imaging (MRI) showed inflammation of his seminal vesicle. His candida antigen titer was high and antibiotic therapy was unsuccessful. High fever persisted despite fluconazole treatment, however he recovered after treatment with fluconazole and vitamin d (alfacalcitol). Idiopathic hypoparathyroidism hinders the activation of vitamin d via insufficient PTH secretion, and vitamin d has some immunological effects. His decreased natural killer (NK) cell activity improved after alfacalcitol treatment. We suggest the possible immunological effects of vitamin d in this fungal infection.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
8/8. candida endocrinopathy syndrome with membranoproliferative glomerulonephritis: demonstration of glomerular candida antigen.A boy who had the candida endocrinopathy syndrome, consisting of mucocutaneous candidiasis, hypoparathyroidism and hypoadrenocorticism, also had hypocomplementemic membranoproliferative glomerulonephritis. A renal biopsy at age 16 showed lobular glomerulonephritis with chronic interstitial inflammation. Glomerular and focal tubular deposition of IgG and C3, but not C4, were seen by immunofluorescence microscopy. Electron microscopy revealed dense intramembranous deposits in glomerular, tubular and Bowman's capsul basement membranes. C. albicans antigenic material was detected in the glomeruli by immunofluorescence microscopy using an FITC-labelled rabbit antiserum to the patient's organism. These fidings suggest that chronic C. albicans infection led to an immune complex form of nephritis. Clinical and laboratory evidence of resolution of his nephritis and return to normal serum levels of C3 followed prolonged antifungal therapy.- - - - - - - - - - ranking = 5keywords = antigen (Clic here for more details about this article) |