Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.

BACKGROUND: Patients with partial DiGeorge syndrome (pDGS) can present with immune dysregulation, the most common being autoimmune cytopenia (AIC). There is a lack of consensus on the approach to type, combination, and timing of therapies for AIC in pDGS. Recognition of immune dysregulation early in pDGS clinical course may help individualize treatment and prevent adverse outcomes from chronic immune dysregulation. OBJECTIVES: Objectives of this study were to characterize the natural history, immune phenotype, and biomarkers in pDGS with AIC. METHODS: Data on clinical presentation, disease severity, immunological phenotype, treatment selection, and response for patients with pDGS with AIC were collected via retrospective chart review. Flow cytometric analysis was done to assess T and B cell subsets, including biomarkers of immune dysregulation. RESULTS: Twenty-nine patients with the diagnosis of pDGS and AIC were identified from 5 international institutions. Nineteen (62%) patients developed Evan's syndrome (ES) during their clinical course and twenty (69%) had antibody deficiency syndrome. These patients demonstrated expansion in T follicular helper cells, CD19hiCD21lo B cells, and double negative cells and reduction in CD4 naïve T cells and regulatory T cells. First-line treatment for 17/29 (59%) included corticosteroids and/or high-dose immunoglobulin replacement therapy. Other overlapping therapies included eltrombopag, rituximab, and T cell immunomodulators. CONCLUSIONS: AIC in pDGS is often refractory to conventional AIC treatment paradigms. Biomarkers may have utility for correlation with disease state and potentially even response to therapy. Immunomodulating therapies could be initiated early based on early immune phenotyping and biomarkers before the disease develops or significantly worsens.

A Case-Control Study Evaluating Risk Factors and Outcomes of Hospitalized Children With ESBL-UTI.

Urinary tract infections (UTIs) are among the most common causes of hospitalization in children, with a rising prevalence of extended-spectrum beta-lactamase-producing organisms (ESBL). The purpose of this study was to identify risk factors and treatment outcomes of children with ESBL-UTI. A retrospective case-control study of hospitalized children was performed from July 2014 till December 2017. Medical records from patients with a positive urine culture were reviewed and included in the study if they met criteria for UTI. Cases were defined as ESBL-UTI, while controls were defined as non-ESBL-UTI patients. This study confirmed that there are certain risk factors, such as previous UTI, recent antibiotic use, urinary tract abnormalities, recent hospital admission, and nonrenal comorbidities, that are associated with ESBL-UTI. Most of the patients with ESBL-UTI responded to discordant antibiotics. Other significant outcomes in patients with ESBL-UTI included a longer length of stay and longer intravenous antibiotic therapy.