Autoimmune Cytopenias and Associated Conditions in CVID: a Report From the USIDNET Registry.

PURPOSE: Autoimmune cytopenia is frequently a presenting manifestation of common variable immune deficiency (CVID). Studies characterizing the CVID phenotype associated with autoimmune cytopenias have mostly been limited to large referral centers. Here, we report prevalence of autoimmune cytopenias in CVID from the USIDNET Registry and compare the demographics and clinical features of patients with and without this complication. METHODS: Investigators obtained demographic, laboratory, and clinical data on CVID patients within the USIDNET Registry. Patients were considered to have autoimmune cytopenia if they had a diagnosis of hemolytic anemia, immune thrombocytopenia (ITP), or autoimmune neutropenia. Baseline characteristics and associated complications of those with autoimmune cytopenia (+AC) and those without (-AC) were compared. RESULTS: Of 990 CVID patients included in the analysis, 10.2% (N = 101) had a diagnosis consistent with autoimmune cytopenia: ITP was diagnosed in 7.4% (N = 73), hemolytic anemia in 4.5% (N = 45), and autoimmune neutropenia in 1% (N = 10). Age at diagnosis, gender, and baseline Ig values did not differ between the +AC and -AC groups. The +AC group was significantly more likely to have one or more other CVID-associated non-infectious complications (OR = 2.9; 95%-CI: 1.9-4.6, P < 0.001), including lymphoproliferation, granulomatous disease, lymphomas, hepatic disease, interstitial lung diseases, enteropathy, and organ-specific autoimmunity. CONCLUSIONS: Autoimmune cytopenias are a common manifestation in CVID and are likely to be associated with other non-infectious CVID-related conditions. In light of prior studies showing increased morbidity and mortality in CVID patients with such complications, a diagnosis of autoimmune cytopenia may have prognostic significance in CVID.

Erythema Multiforme in Children and Mycoplasma pneumoniae Aetiology.

Erythema multiforme (EM) in children is understudied and confused with Stevens-Johnson syndrome (SJS) despite their being separate diseases with unique aetiologies and clinical presentations. The goal of this study was to determine the prevalence of Mycoplasma pneumoniae in paediatric patients with EM minor, EM major (EMM), and SJS. This retrospective cohort at The Hospital for Sick Children accrued all cases of EM minor, EMM, and SJS from 1999 to 2013. Sixty-five cases were identified: 20 of EM minor, 23 of EMM, and 22 of SJS. Aetiologies were attributed in 58% of cases: 79% infection and 21% drug aetiology. Sixty-one percent of patients with EMM were M pneumoniae positive, compared with 14% of those with SJS and 22% of those with EM minor (P < .01). M pneumoniae patients were older at presentation (P = .03) and more frequently had sore throat (P < .01) and atypical targets with central blistering (P < .01). These findings suggest that M pneumoniae should be suspected and treated until laboratory confirmation becomes available in patients presenting with atypical target lesions with central blistering.

Application of CAD/CAM prefabricated age-matched templates in cranio-orbital remodeling in craniosynostosis.

Infants with craniosynostosis involving the metopic and coronal sutures require cranio-orbital reshaping to correct craniofacial dysmorphologic feature and to improve facial balance. Currently, surgical techniques to create a balanced fronto-orbital region are based on the surgeon's subjective approach and artistic vision in creating a normal shape to the forehead. To date, the use of age-matched templates and computer-assisted design/computer-assisted manufacturing techniques in optimizing the outcomes of surgical intervention in this area have not been explored. The aim of this article was to describe the process of template generation and application based on age-matched controls using computer-assisted design/computer-assisted manufacturing technology and to present this application in 2 cases.