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. Author manuscript; available in PMC: 2018 Jan 1.
Published in final edited form as: J Allergy Clin Immunol. 2016 Jul 16;139(1):232–245. doi: 10.1016/j.jaci.2016.05.042

Figure 4.

Figure 4

Disease-associated variants and inheritance patterns observed among the 110 families in the PIDD cohort where a likely molecular diagnosis was established. (A) Spectrum of disease-associated variants detected in the PIDD cohort. In total 148 different variants were identified among the 110 families where a likely molecular diagnosis was established. The SNVs are classified based on assumed effect on protein. The indel led to a frameshift and stop codon and the in-frame deletion is previously reported to be disease causing by altered protein function. With exception of the DKC1 duplication, all 12 CNVs are deletions. All CNVs are assumed to result in loss of function. (B) Inheritance patterns observed among the 110 families in the PIDD cohort where a likely molecular diagnosis was established. The mosaic variant in KRAS is only compatible with life in somatic mosaic state, thus a Mendelian inheritance pattern is not applicable.