Figure 1.
Figure 1. Distribution of single-patient inborn errors of immunity reported per year. The red dots indicate conditions that have not yet been reported in a second patient. It is notable that the number of single-gene defects reported per year is increasing with time, with two peaks, one in the years 1995–1999 and another in 2010–2013. The first peak (13 patients) corresponds mostly to the discovery of genetic etiologies of classical PIDs that had been long clinically delineated, all discovered by newly developed genetic tools for linkage analysis and a candidate gene approach. The second peak (15 patients) benefited from the advent of NGS (PI3K p85α, CARD11, OX40, and PCKδ deficiencies in a total of 5 patients) but also reflected the growth of the field and the exploration of novel phenotypes (e.g., IRF8, STAT2, and Ikaros deficiencies).

Distribution of single-patient inborn errors of immunity reported per year. The red dots indicate conditions that have not yet been reported in a second patient. It is notable that the number of single-gene defects reported per year is increasing with time, with two peaks, one in the years 1995–1999 and another in 2010–2013. The first peak (13 patients) corresponds mostly to the discovery of genetic etiologies of classical PIDs that had been long clinically delineated, all discovered by newly developed genetic tools for linkage analysis and a candidate gene approach. The second peak (15 patients) benefited from the advent of NGS (PI3K p85α, CARD11, OX40, and PCKδ deficiencies in a total of 5 patients) but also reflected the growth of the field and the exploration of novel phenotypes (e.g., IRF8, STAT2, and Ikaros deficiencies).

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