Single-cell expression quantitative trait loci (eQTL) analysis of SLE-risk loci in lupus patient monocytes.

Background: We performed expression quantitative trait locus (eQTL) analysis in single classical (CL) and non-classical (NCL) monocytes from patients with systemic lupus erythematosus (SLE) to quantify the impact of well-established genetic risk alleles on transcription at single-cell resolution.

Methods: Single-cell gene expression was quantified using qPCR in purified monocyte subpopulations (CD14CD16 CL and CD14CD16 NCL) from SLE patients. Novel analysis methods were used to control for the within-person correlations observed, and eQTLs were compared between cell types and risk alleles.

Type I Interferon Predicts an Alternate Immune System Phenotype in Systemic Lupus Erythematosus.

Objective: Type I interferon (IFN) is important to systemic lupus erythematosus (SLE) pathogenesis, but it is not clear how chronic elevations in IFN alter immune function. We compared cytokine responses after whole blood stimulation with Toll-like receptor (TLR) agonists in high- and low-IFN SLE patient subgroups.

Methods: SLE patients and nonautoimmune controls were recruited, and SLE patients were categorized as either high or low IFN.

Single-cell gene expression patterns in lupus monocytes independently indicate disease activity, interferon and therapy.

Objectives: Important findings can be masked in gene expression studies of mixed cell populations. We examined single-cell gene expression in SLE patient monocytes in the context of clinical and immunological features.

Methods: Monocytes were purified from patients with SLE and controls, and individually isolated for single-cell gene expression measurement.

Lupus-Associated Functional Polymorphism in PNP Causes Cell Cycle Abnormalities and Interferon Pathway Activation in Human Immune Cells.

Objective: Systemic lupus erythematosus (SLE) is frequently characterized by activation of the type I interferon (IFN) pathway. We previously observed that a missense single-nucleotide polymorphism (rs1049564) in the purine nucleoside phosphorylase (PNP) gene was associated with high levels of IFN in SLE. PNP is a key enzyme involved in purine metabolism.

Design and operation of the National Survey of Children with Special Health Care Needs, 2009-2010.

Objectives: This report presents the development, plan, and operation of the 2009-2010 National Survey of Children with Special Health Care Needs, a module of the State and Local Area Integrated Telephone Survey. The survey is conducted by the Centers for Disease Control and Prevention's National Center for Health Statistics. This survey was designed to produce national and state-specific prevalence estimates of children with special health care needs (CSHCN), to describe the types of services that they need and use, and to assess aspects of the system of care for CSHCN.