Many immunedeficiency syndromes are associated with autoimmune disorders. We here report on a girl with a systemic lupus erythematosus-like disease who suffered from both hyperimmunoglobulin M syndrome (HIGMS) and C1q deficiency. Despite severe central nervous system-lupus like disease, probably due to C1q deficiency, kidney function was relatively spared. IgM autoantibody might play a protecti...

BACKGROUND Defects in B cell class switch recombination (CSR) are a heterogeneous and yet very uncommon group of disorders which all have a genetic basis uniformly leading to hyper IgM (HIgM) syndrome. Due to the rare frequency of these conditions, a very small number of case series have been conducted on the affected patients. OBJECTIVE To shed some light on the morbidity and mortality regar...

Immigrants from undeveloped countries are a growing problem in Europe. Spain has become a frequent destination for immigrants (20% of whom are children) because of its geographic location and its historic and cultural links with Africa and Latin America. Eosinophilia is frequent in adult immigrants, travelers and expatriates coming from tropical areas. However, there are few studies that focus ...

Anti-idiotypic antibodies to four monoclonal IgM, one polyclonal IgM, and one polyclonal IgA rheumatoid factors were produced in rabbits and tested for cross reactivity with rheumatoid factors from nine patients with essential mixed cryoglobulinaemia, three patients with rheumatoid arthritis, four patients with systemic sicca syndrome, and one patient with systemic lupus erythematosus. Variable...

Activation-induced (cytidine) deaminase (AID) efficiently introduces multiple and diversified deaminations in immunoglobulin (Ig) variable and switch regions. Here, we review studies of AID, and the APOBEC family member, APOBEC3G, demonstrating that both enzymes introduce multiple deaminations by processive action on single-stranded DNA and that deaminations occur stochastically at hot- and col...

AIMS To analyse the gene encoding the CD40 ligand (CD40L) in 11 Australian patients from 10 unrelated families with the X linked hyper-IgM (XHIM) phenotype. METHODS The CD40L gene was screened for mutations using direct sequencing of exon specific polymerase chain reaction (PCR) products. RESULTS Ten mutations were identified. Seven of these mutations have been described previously, whereas...

1 “A. Nocivelli” Institute for Molecular Medicine and Pediatric Clinic, University of Brescia, 25123 Brescia, Italy 2 Medical Genetic Laboratory, S. Orsola-Malpighi Hospital, and University of Bologna, 40138 Bologna, Italy 3 Institute of Medical Technology, FI-33014 University of Tampere, Finland, and Tampere University Hospital, FI-33520 Tampere, Finland 4 Department of Pediatrics, University ...

BACKGROUND Non-severe acute respiratory syndrome (non-SARS)-related human coronaviruses (HCoVs), including HCoV-229E, -HKU1, -NL63, and -OC43, have been detected in respiratory tract samples from children and adults. However, the natural prevalence of antibodies against these viruses in serum among population is unknown. METHODS To measure antibodies to the spike (S) protein of the four commo...