Additional file 1: Table S1. of Studies in the mouse model identify strain variability as a major determinant of disease outcome in Leishmania infantum infection

Primers used to amplify mouse genes. (PDF 8 kb

PSP association results for the three SNPs associated in the discovery and replication datasets.

<p>PSP association results for the three SNPs associated in the discovery and replication datasets.</p

Main clinical and demographic characteristics of the PSP case-control discovery and replication datasets.

<p>Main clinical and demographic characteristics of the PSP case-control discovery and replication datasets.</p

Regional LD plot for rs4733649 at 8q24.21.

<p>The pairwise LD (r²) between the SNP of interest and surrounding variants and the estimated recombination rate are plotted as a function of genomic position. This plot was constructed by SNAP (SNP Annotation and Proxy Search, <a href="http://www.broadinstitute.org/mpg/snap/ldplot.php" target="_blank">http://www.broadinstitute.org/mpg/snap/ldplot.php</a>) using the CEU population panel in the 1000 Genome Project (1000GP) Pilot 1 data and a 500 kilobases (kb) distance limit on each side. The horizontal dashed line is at the 0.8 cut-off for r², and the vertical dashed lines indicate the genomic region encompassing SNPs in strong LD (r²≥0.8) with the variant of interest.</p

Modified Manhattan plot (|RAS_diff| against chromosomal location) for the primary spontaneous pneumothorax genome-wide association study.

<p>The absolute value of the relative allele score (RAS) difference between cases and controls (|RAS_diff|) is shown for 868,260 autosomal SNPs allelotyped in 92 PSP patients and 129 healthy controls, ordered by chromosomal position. The red and blue lines represent the 12% and 8% |RAS_diff| thresholds, respectively.</p

Additional file 3: of Primary immunodeficiency associated with chromosomal aberration – an ESID survey

Additional test results of the included patients. (DOCX 24 kb

Additional file 2: of Primary immunodeficiency associated with chromosomal aberration – an ESID survey

Clinical and immunological characteristics of the excluded patients. (DOCX 24 kb