Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.

Purpose: Determining the monogenic cause of antibody deficiency and immune dysregulation in a non-consanguineous family with healthy parents, two affected children, and one unaffected child.

Methods: Whole Exome Sequencing (WES) was performed in the index family. WES results were confirmed by Sanger Sequencing.

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.

Autosomal recessive human ZAP70 deficiency is a rare cause of combined immunodeficiency (CID) characterized by defective CD4 T cells and profound CD8 T cell lymphopenia. Herein, we report two novel patients that extend the molecular genetics, the clinical and functional phenotypes associated with the ZAP70 deficiency. The patients presented as infant-onset CID with severe infections caused by varicella zoster virus and live vaccines.

Surface expression and genotypes of Toll-like receptors 2 and 4 in patients with juvenile idiopathic arthritis and systemic lupus erythematosus.

Background: Chronic arthritis is a common feature of juvenile idiopathic arthritis (JIA) and systemic lupus erythematosus (SLE). It was subsequently discovered that Toll-like receptors (TLRs) are able to upregulate cytokine production in response to endogenous ligands released after tissue damage, suggesting that TLRs can maintain an inflammatory response even in absence of pathogen. Thus, TLRs may contribute to increased inflammation in JIA and SLE patients.

Immunogenicity and safety of a tetravalent measles-mumps-rubella-varicella vaccine co-administered with a booster dose of a combined diphtheria-tetanus-acellular pertussis-hepatitis B-inactivated poliovirus-Haemophilus influenzae type b conjugate vaccine in healthy children aged 12-23 months.

This study was undertaken to assess the co-administration of an experimental measles-mumps-rubella-varicella vaccine (MMRV, GlaxoSmithKline Biologicals) with a combined diphtheria-tetanus-acellular pertussis-hepatitis B-inactivated poliovirus-Haemophilus influenzae type b conjugate (DTPa-HBV-IPV/Hib) vaccine in healthy children. Healthy children aged 12-23 months (N = 451) were randomised to one of three parallel groups to receive one dose of MMRV vaccine co-administered with a booster dose of DTPa-HBV-IPV/Hib vaccine (co-administration group), or one dose of MMRV vaccine alone (MMRV group), or a booster dose of DTPa-HBV-IPV/Hib vaccine alone (DTPa-HBV-IPV/Hib group). No differences in seroconversion rates for measles (>95%), mumps (>80%), rubella (>99%) and varicella (>98%) were seen between the co-administration group and the MMRV group.

Safety of reduced-antigen-content tetanus-diphtheria-acellular pertussis vaccine in adolescents as a sixth consecutive dose of acellular pertussis-containing vaccine.

Objective: The safety of a booster dose of a reduced-antigen-content tetanus-diphtheria-acellular pertussis (Tdap) vaccine was evaluated in adolescents previously vaccinated with five doses of acellular pertussis-containing vaccine.

Study Design: Adolescents (n = 319) previously vaccinated with either 5 doses of diphtheria-tetanus-acellular pertussis (DTaP) (n = 193) or 4 doses of DTaP plus another acellular pertussis-containing vaccine received one dose each of Tdap and hepatitis A vaccine in a double-blinded, randomized, crossover trial. Rates of adverse events (AEs) after vaccination with Tdap versus hepatitis A and rates of local AEs among adolescents vaccinated with Tdap (sixth acellular pertussis-containing vaccine dose) versus rates in these same individuals after vaccination with their fifth DTaP dose were assessed.