Case Reports. Chronic and acute Aspergillus meningitis - Falldarstellungen. Chronische und akute Aspergillus-Meningitis

Moling, Oswald; Lass-Floerl, Cornelia; Verweij, Paul E.; Porte, Monique; Boiron, P.; Prugger, Monika; Gebert, U.; Corradini, R.; Vedovelli, Claudio; Rimenti, Giovanni; Mian, Peter

doi:10.1046/j.1439-0507.2002.d01-122.x

Mycoses

2002

DOI: 10.1046/j.1439-0507.2002.d01-122.x

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Case Reports. Chronic and acute Aspergillus meningitis - Falldarstellungen. Chronische und akute Aspergillus-Meningitis

Oswald Moling¹,

Cornelia Lass-Floerl²,

Paul E. Verweij³

et al.

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2004

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Cited by 1 publication

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Complete Complement Components C4A and C4B Deficiencies in Human Kidney Diseases and Systemic Lupus Erythematosus

Yang¹,

Lhotta

Chung³

et al. 2004

The Journal of Immunology

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Although a heterozygous deficiency of either complement component C4A or C4B is common, and each has a frequency of ∼20% in a Caucasian population, complete deficiencies of both C4A and C4B proteins are extremely rare. In this paper the clinical courses for seven complete C4 deficiency patients are described in detail, and the molecular defects for complete C4 deficiencies are elucidated. Three patients with homozygous HLA A24 Cw7 B38 DR13 had systemic lupus erythematosus, mesangial glomerulonephritis, and severe skin lesions or membranous nephropathy. Immunofixation, genomic restriction fragment length polymorphisms, and pulsed field gel electrophoresis experiments revealed the presence of monomodular RP-C4-CYP21-TNX (RCCX) modules, each containing a solitary, long C4A mutant gene. Sequencing of the mutant C4A genes revealed a 2-bp, GT deletion in exon 13 that leads to protein truncation. The other four patients with homozygous HLA A30 B18 DR7 had SLE, severe kidney disorders including mesangial or membranoproliferative glomerulonephritis, and/or Henoch Schoenlein purpura. Molecular genetic analyses revealed an unusual RCCX structure with two short C4B mutant genes, each followed by an intact gene for steroid 21-hydroxylase. Nine identical, intronic mutations were found in each mutant C4B. In particular, the 8127 g→a mutation present at the donor site of intron 28 may cause an RNA splice defect. Analyses of 12 complete C4 deficiency patients revealed two hot spots of deleterious mutations: one is located at exon 13, the others within a 2.6-kb genomic region spanning exons 20–29. Screening of these mutations may facilitate epidemiologic studies of C4 in infectious, autoimmune, and kidney diseases.

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Complete Complement Components C4A and C4B Deficiencies in Human Kidney Diseases and Systemic Lupus Erythematosus

Yang¹,

Lhotta

Chung³

et al. 2004

The Journal of Immunology

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Case Reports. Chronic and acute Aspergillus meningitis - Falldarstellungen. Chronische und akute Aspergillus-Meningitis

Cited by 1 publication

References 31 publications

Complete Complement Components C4A and C4B Deficiencies in Human Kidney Diseases and Systemic Lupus Erythematosus

Complete Complement Components C4A and C4B Deficiencies in Human Kidney Diseases and Systemic Lupus Erythematosus

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