Heredit?re Fiebersyndrome

Familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), and tumour necrosis factor (TNF) receptor-1-associated periodic syndrome (TRAPS) are monogenic disorders included under the term??hereditary fever syndromes??. These diseases are characterized by recurrent episodes of fever and inflammation and arise from mutations of genes regulating the innate immune system. The present review describes the clinical and genetic spectrum of hereditary fever syndromes, which are of importance for genetic counseling.     

Epileptische Enzephalopathie und Zahnschmelzdefekt (Kohlschütter-Tönz-Syndrom)

Kohlschütter-Tönz syndrome is a rare genetic disorder with neurologic symptoms – epilepsy and severe developmental delay – and defective enamel leading to yellow or brownish discoloration of teeth. The first family was described in 1974, all affected patients were male. In the meantime, families with both male and female patients were identified as well. Inheritance is thus most probably autosomal recessive; genetic heterogeneity can however not be ruled out. Clinical course and disease severity may differ even within one family. As the genetic basis has not yet been elucidated, diagnosis must be made on clinical grounds. We report three new children with Kohlschütter-Tönz syndrome in comparison to the 21 hitherto published cases.     

Differences in marker expression among branched histiocytic cells in T-cell areas of the lymphoreticular system and among their epidermis- and mucosa-associated equivalents

Summary Branched histiocytic cells of the epidermis, the oral and anal mucosa, the tonsillar crypt epithelium, the thymus and of the T-cell-dependent areas of lymph node, spleen, and tonsil were examined with immunohistochemical single- and double-staining techniques. The markers used were a monoclonal anti-T6-antibody, a monoclonal anti-HLA-DR-antibody, heteroantiserum to S-100 protein and peanut agglutinin. Anti-HLA-DR and peanut agglutinin reacted with a considerable number of branched histiocytic cells, whereas anti-T6 and anti-S-100 protein only stained relatively small subpopulations. Concerning the population of branched histiocytic cells, double-staining revealed that the tissue distributions of all the markers used overlapped each other to various degrees; this was demonstrated by the different numbers of double-stained cells obtained in the experiments using all six possible combinations of primary reagents. The number of branched histiocytic cells co-expressing the markers varied depending upon marker combinations, types of tissue and microenvironment. We suggest that much of the immunologic phenotype of branched histiocytic cells is dynamic rather than static.Abbreviations used BHCs branched histiocytic cells - anti-T6 monoclonal antibody to T6 antigen - anti-HLA-DR monoclonal antibody to HLA-DR - anti-S-100p antiserum to S-100 protein - (anti-)PNA (anti-)peanut agglutinin - GAM goat anti-mouse IgG - RAM rabbit anti-mouse IgG - GAR-AP alkaline phosphatase-conjugated goat anti-rabbit Ig - SAR porcine anti-rabbit Ig - PAP peroxidase-anti-peroxidase complex - APAAP alkaline phosphataseanti-alkaline phosphatase complex - iAP indirect alkaline phosphatase - AEC 3-amino-9-ethylcarbazole - FB fast blue BB salt - levamisole L[-]2,3,5,6-tetrahydro-6-phenylimidazo[2,1-b]thiazole - DMF NN-dimethylformamide - PBS phosphate-buffered saline solution - + positive reaction of a cell with a resp. marker - – negative reaction of a cell with a resp. marker This work was supported by the German Research Foundation (DFG: Mo.384/1-2)     

Analysis of Pneumocystis carinii cyst wall. I. Evidence for an outer surface membrane

It has long been thought that the cyst form of Pneumocystis carinii, which can resist host defenses and antimicrobial drugs, is responsible for relapses of P. carinii pneumonia. The thick wall of the cyst is immunogenic and rich in glucosyl/mannosyl and N-acetyl-D-glucosamine residues. In this study we have demonstrated the presence of a hitherto unreported outer membrane in the cyst wall of P. carinii. This membrane was detected by a combination of techniques, including transmission electron microscopy, freeze-fracture electron microscopy, and membrane labeling with fluorescent lipid analogs following treatment of P. carinii cysts from infected rats for 30 min with Zymolyase, a beta-1-3 glucanase. As in gram-negative bacteria and blue-green algae, this 2nd membrane may have an important role in osmoregulation and nutrient utilization; it may also mediate the interaction of P. carinii with its host and serve as a target for drug therapy.