Nereida González-Quevedo, Spain
Hospital Universitario de Gran Canaria Doctor Negrín ImmunologyAuthor Of 2 Presentations
ASSOCIATION OF VARIANTS OF THE COMPLEMENT PATHWAY ASSOCIATED WITH DYSREGULATED COMPLEMENT ACTIVATION WITH PNEUMOCOCCAL PNEUMONIA IN ADULTS (ID 658)
Abstract
Background
Introduction: Variants at complement genes predispose to infections and/or hyperinflammation (complementopathies). We analyzed the association of variants at complement genes with susceptibility to community-acquired pneumonia (CAP).
Methods
Methods. Common variants at the genes C2, C3, CFH and CFB associated with several complementopathies; C2 Del28bp, C5 p.V802I and CFH p.E936D, predisposing to infectious diseases; Copy number variation (CNV) at C4 (C4A, C4B, C4S and C4L). Taqman SNP genotyping assays and Taqman Copy Number assays. 932 adults with CAP (356 had pneumococcal CAP -P-CAP) and 851 controls.
Results
Results. The rs2230199 (C3102R) alleles and genotypes associated with CAP (p=0.000005, OR 1.6) and P-CAP (p=0.0001, OR 1.72). The rs547154 at C2 (tagging FBR32Q) associated with CAP (p=0.002, OR 1.35) and P-CAP (p=0.0002, OR 1.59). No association of CNV at C4 or other variants with P-CAP was observed.
Conclusions
Conclusion. The functional variants C3102G and FB32R, which activate the alternative pathway more efficiently, have been previously associated to several complementopathies. It was hypothesized that the low activity C3102R and FB32Q variants could associate with bacterial infections. Our data show that the C3102R and FB32Q variants do associate with predisposition to pneumococcal CAP in adults.
HIGH INCIDENCE OF PRIMARY IMMUNODEFICIENCIES IN PATIENTS HOSPITALIZED FOR INVASIVE PNEUMOCOCCAL DISEASES (ID 865)
Abstract
Background
Introduction. Some primary immunodeficiencies (PIDs) confer predisposition to invasive pneumococcal disease (IPD).
Methods
Methods. Identification of pediatric patients with IPD (January 2000-February 2017). Clinical and epidemiologic data and immunological explorations.
Results
Results.We identified 209 children who suffered from IPD, of whom 78 patients (mean age 34 months; range, 0 days-13 years) required hospitalization. Sixteen of the 78 children (20.5%) had classical risk factors. Immunological evaluation could be performed to 44 patients. Eight patients suffered from a PID: IRAK-4 deficiency (1 patient), X- linked agammaglobulinemia (1), congenital asplenia (2), Ataxia-telangiectasia (1), DiGeorge Syndrome (1), Charge Syndrome (1), and partial Chromosome 16 trisomy with low numbers of switched-memory B cells and hypogammaglobulinemia (1). Only two patients had recurrent IPD, and 6/8 patients did not have a clinical history suggestive of PID. In 6 of the 8 patients with PID no serious infections were recorded after diagnosis.
Conclusions
Conclusions. Around 18% of pediatric cases hospitalized with IPD may be due to a PID. Prompt diagnosis and treatment after one episode of hospitalization for IPD, even in the absence of previous severe and/or recurrent infections, protect against posterior serious infections in patients with PID.