Das hyper-IgD-syndrom

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Celiac disease and pulmonary hemosiderosis in a patient with chronic granulomatous disease.

We report on a patient with the hitherto undescribed combination of chronic granulomatous disease, pulmonary hemosiderosis, and celiac disease. The hemosiderosis resolved with a gluten-free diet and glucocorticosteroid pulse therapy, but the restrictive lung function pattern remained unchanged. Lung function improved markedly by immunosuppression with daily glucocorticosteroid and azathioprine treatmen

GVHD suppression by incubation of bone marrow grafts with anti-T-cell globulin: Effect in the canine model and application to clinical bone marrow transplantation.

The present studies were performed in order to establish the anti-GVHD effect of an incubation treatment in the dog, which is regarded a model of particular relevance for clinical bone marrow transplantation. Application of this principle to a case of human marrow transplantation is reported

Chronic recurrent multifocal osteomyelitis (CRMO) : Evidence for a susceptibility gene located on chromosome 18q21.3-18q22.

Chronic recurrent multifocal osteomyelitis (CRMO) is characterised by recurrent inflammatory lesions in the metaphyses of long bones and usually affects children and adolescents. Similarity with an autosomal recessive mouse disorder (cmo, chronic multifocal osteomyelitis) prompted us to perform a family based association study with two markers on chromosome 18q in the region homologous to the cmo localisation of the mouse. We found a significant association of CRMO with a rare allele of marker D18S60, resulting in a haplotype relative risk (HRR) of 18. This suggests the existence of a gene in this region contributing in a significant manner to the aetiology of CRMO and concomitantly demonstrates evidence for a genetic basis of CRMO for the first time. This gene is different from RANK, which is mutated in familial expansile osteolysis (FEO), but not in CRMO. Mutation screening in RANK and the genes PIGN and KIAA1468 led to detection of two variants (one in RANK and one in PIGN), which are in linkage disequilibrium with the rare D18S60 allele, but not independently associated with CRMO

Posaconazole for treatment of refractory invasive fungal disease

Invasive fungal infections are usually associated with immunocompromised states About 40-60% of these patients are refractory to standard antifungal therapy We describe the effect of posoconazole in the treatment of a 12 years-old girl with uncontrolled diabetes mellitus with life-threatening cerebral mucor mycosis and a 4 year old girl boy with chronic granulomatous disease presenting with invasive Aspergillus nidulans infection

Fine localization of the Nijmegen Breakage Syndrome gene at 8q21: Evidence for a common founder haplotype

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