Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

Background: TNF receptor-associated syndrome (TRAPS) is a dominantly inherited autoinflammatory condition caused by mutations in the gene. The mechanism underlying the variable expressivity of the common variant R92Q (rs4149584; c.362G>A; p.

Invasive pneumococcal disease in children can reveal a primary immunodeficiency.

Background: About 10% of pediatric patients with invasive pneumococcal disease (IPD) die from the disease. Some primary immunodeficiencies (PIDs) are known to confer predisposition to IPD. However, a systematic search for these PIDs has never been carried out in children presenting with IPD.

Human bocavirus infection in children with respiratory tract disease.

Background: Human bocavirus (HBoV) is a ubiquitous, newly described member of the Parvoviridae family frequently detected in the respiratory tract of children, but only few reports provide data proving the link between HBoV and respiratory tract disease (RTD).

Objectives: To evaluate the incidence of HBoV infection in children with RTD; to analyze the clinical features of HBoV infection; and to clinically compare HBoV, respiratory syncytial virus (RSV), and human metapneumovirus (HMPV) infections.

Study Design: A prospective 1-year study was conducted in children <5 years of age hospitalized with RTD and in asymptomatic control children.

Human metapneumovirus infection in young children hospitalized with respiratory tract disease.

Background: Human metapneumovirus (hMPV) is a newly recognized pathogen associated with respiratory tract disease (RTD).

Objectives: To evaluate the incidence of hMPV infection in children hospitalized with RTD and to analyze the virologic and clinical features of hMPV infection.

Study Design: All children younger than 5 years of age hospitalized for RTD were included in this 1-year prospective study.