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. Author manuscript; available in PMC: 2017 May 1.
Published in final edited form as: J Clin Immunol. 2016 Apr 11;36(4):341–353. doi: 10.1007/s10875-016-0266-5

Fig. 1. Two compound heterozygous LIG4 mutations are found in the index patient and two of her siblings.

Fig. 1

Diagram of the pedigree and annotation of LIG4 genotypes. The mutation c.1345A>C (K449Q) was found on one allele in the father, and c.2440C>T (R814X) in the mother. Both mutations were inherited by siblings P1, P2, and P3. III.3 is heterozygous for the c.2440C>T mutation. The symbol “+” denotes the wild type allele.