[Hyper-IgD-syndrome]. / Das Hyper-IgD-Syndrom.

UNLABELLED: We report on a 6-year-old Romanian girl with recently diagnosed hyper-IgD-syndrome. The leading symptom of this rare disease are periodic pyrexia, joint involvements (arthralgias/arthritis) and swollen lymph nodes. A permanent increase of alpha 1-acid glycoprotein fucosylation indicates persisting inflammation. Most important in differential diagnosis in familial Mediterranean fever. Therapy is merely supportive as yet, the long-term outlook seems good despite duration of the illness. CONCLUSION: the hyper-IgD-syndrome must be considered in cases of otherwise unexplained periodic fever.

Early-onset pauciarticular juvenile chronic arthritis is associated with a mutation in the Y-box of the HLA-DQA1 promoter.

Early-onset pauciarticular juvenile chronic arthritis (EOPA-JCA) has associations with different alleles of the MHC region (HLA-A2, DR5, 6, 8, DQA1*0401, *0501, *0601 and DPB1*0201). All susceptible DQA1 alleles carry an exclusive sequence motif. MHC-class II gene expression is controlled by 5' flanking upstream regulatory regions (URR). A hypervariable region in the promoter region of the HLA-DQA1 gene (-240 and -200 base pairs upstream) defines ten different QAP (DQA1-Promoter) alleles, which are associated with certain DQA1-alleles. The Y-Box in the DQA1 promoter (YC-Box -125 to -115 upstream from the ATG) differs from the consensus sequence (-123 A for G) of all other MHC class II Y-Boxes, resulting in a lower affinity to the NF-Y transcription factor and in a reduced expression of DQA1. A second substitution in the Y-Box of QAP 4.1 and 4.2 (-119 A for G) is found in the promoter alleles of the DQA1-alleles (DQA1*0401, *0501, *0601) and is strongly associated with susceptibility to EOPA-JCA.

Susceptible and protective major histocompatibility complex class II alleles in early-onset pauciarticular juvenile chronic arthritis.

Oligonucleotide typing for alleles of the MHC loci DRB1, DQA1, and DQB1 was performed in 160 patients suffering from EOPA, JCA (or JRA = juvenile rheumatoid arthritis). Allele and haplotype frequencies of the patients were compared with the data of an unrelated healthy control group consisting of 200 individuals. Analysis of frequencies shows that HLA alleles are associated not only with susceptibility to EOPA-JCA but also with protection from the disease. The presence of protection connected with certain HLA alleles was assessed using a calculation which takes into account the condition that if one allele is increased, all other alleles of the same locus must be decreased in compensation. Protection can be assumed only in cases where a given allele has an observed frequency which is significantly beyond the expected compensatory decrease. Thus a hierarchy of associations was observed in EOPA-JCA patients. The alleles of the haplotypes DRB1*11 (12)-DQA1*0501-DQB1*0301 as well as DRB1*08-DQA1*0401-DQB1*0402 were found to be associated with susceptibility to disease, whereas the alleles DRB1*07 and DQA1*0201 converge with significant protection from the disease. Whereas the association with disease susceptibility seems to depend on a sequence motif encoded in certain DQA1 alleles, protection is associated either with alleles of DRB1 or DQA1.

[Modification of systemic signs and elastase in neutrophilic granulocytes in inflammatory rheumatic diseases in childhood by immunoglobulin therapy]. / Beeinflussung systemischer Zeichen und der Elastase der neutrophilen Granulozyten bei entzündlich-rheumatischen Erkrankungen im Kindesalter durch Immunoglobulintherapie.

Eight children suffering from various rheumatic diseases were treated with high-dose intravenously administered immunoglobulins. Signs of the disease were well controlled by this treatment. In all cases the levels of neutrophilic granulocyte elastase decreased during treatment, while there was no improvement of joint disease.

Therapy for systemic juvenile rheumatoid arthritis with gamma-interferon: a pilot study of nine patients.

Nine severely ill patients with a confirmed diagnosis of systemic juvenile rheumatoid arthritis were treated with recombinant gamma-interferon (gamma-IFN) in addition to the therapy they were previously receiving for their disease. Improvements in clinical symptoms were noted in 7 of the patients, and median laboratory values also showed a marked improvement after gamma-IFN treatment. A relapse occurred in 1 patient. The results of this study should stimulate further research on the use of gamma-IFN in systemic juvenile rheumatoid arthritis, particularly in determining the appropriate effective dosage.

[Effect of chloroquine on polyanions]. / Uber den Einfluss von Chloroquin auf Polyanionen.

Chloroquine forms complexes with polyanions as does the metachromatic dye pseudoisocyanine. This phenomenon can be used to show chloroquine binding to polyanions. It is shown spectrophotometrically that glycosaminoglycans form complexes with chloroquine more readily than with pseudoisocyanine. Moreover chloroquine abolishes fluorescence of glycosaminoglycan inclusion bodies in leucocytes of mucopolysaccharidosis patients. A woman of 34 suffering from mucopolysaccharidosis type I-S had such inclusion bodies in 19 out of 200 leucocytes examined before and in only two after a month of chloroquine treatment. In heparinized blood chloroquine induces clotting faster than does saline in control samples. This finding suggests inactivation of polyanions by chloroquine binding.

[New results on hyperglobulinemic purpura of Waldenström in childhood (author's transl)]. / Neue Befunde bei der benignen Purpura hypergammaglobulinaemica Waldenström im Kindesalter.

The case of a 13 year old girl with benign purpura hypergammaglobulinemica Waldenström. Besides the characteristic clinical symptoms and the respective laboratory results new findings we demonstrated, which might shed some light into the pathogenesis of this disease. The transformation rate of lymphocytes was decreased particularly after stimulation with ConA. The T-lymphocytes which are reduced in their function are unable to sufficiently control the activity of mesenchymal cells which results in an increased production of glycosaminoglycans. The demonstration of glycosaminoglycan-inclusion-bodies in the mononuclear bone marrow cells of the patient could be explained by the above mentioned mechanism. Upon therapy with D-penicillamine the clinical state improved along with a reduction of the sedimentation rate, the serum protein and the serum gamma-globulin.

[The influence of disodium cromoglycate (DNCG) on the phagocytotic activity of neutrophile granulocytes (author's transl)]. / Der Einfluss von Dinatrium cromoglicicum auf die Phagozytosefähigkeit neutrophiler Granulozyten.

Disodium cromoglycate (Intal) inhibits in vitro the phagocytotic activity of neutrophile granulocytes. In thirteen pairs of blinding analysed experiments it could be shown that the DNCG incubatet blood samples had a phagocytotic index below that of the control. The statistical significance of these findings was assessed by a variance analysis.

[Relations between cell-bound lipids and disodium cromoglycate (author's transl)]. / Beziehungen zwischen zellständigen Lipiden und Dinatrium cromoglicicum.

Disodium cromoglycate binds in vitro and in vivo to lipids in white cells. Smears of cells from lymphocyte cultures and from bone marrow aspirates treated with DNCG and subsequently stained with pseudoisocyanine show a characteristic green fluorescence (515 nm) of membrane- and intracellular-lipids. It is suggested that the mode of action of DNCG in the prophylaxis of bronchial asthma could be the binding of DNCG to membrane lipids. This binding might block the IgE-mediated reaction on the surface of mast cells which otherwise would lead to degranulation and release of vasoactive substances.

[Acid mucopolysaccharides in human blood and bone marrow cells shown by fluorescence microscopy (author's transl)]. / Fluoreszenzmikroskopischer Nachweis saurer Mucopolysaccharide in menschlichen Blut- und Knochenmarkzellen

In lymphocytes, monocytes and basophil granulocytes of patients with mucopolysaccharidosis specific fluorescence of acid mucopolysaccharides exists after fixation of blood smears with 9-aminoacridin-hydrochloride and subsequent staining with pseudoisocyanine at pH 4.2. A total of eleven children with various types of mucopolysaccharidosis were investigated. Specificaly stained granula were demonstrated in 5 to 49 percent of all lymphocytes and monocytes. Acid mucopolysaccharides were for the first time also shown in red-cell precursors of the bone marrow of children with mucopolysaccharidosis.