Potential pathogenicity of these alleles was supported by co-segregation with the phenotype, low frequency in control populations and the application of stringent bioinformatics analyses.In another eight families segregation of multiple pathogenic variants was observed, affecting 19 genes that were either known or are novel candidates for ID.
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Here we present the results of exome sequencing in 121 large consanguineous Pakistani ID families.
In 60 families, we identified homozygous or compound heterozygous DNA variants in a single gene, 30 affecting reported ID genes and 30 affecting novel candidate ID genes.
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By 2006, only three genes, CC2D1A, CRBN and PRSS12 had been associated with ARID.
After 2006, research studies involving highly inbred populations from North Africa, the Middle East and South East Asia, greatly accelerated the pace of identification of gene mutations that cause ARID.
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