The patient's father also carries the c.301 c > T, P. (Arg 101 Trp) heterozygous mutation in exon 3 of IL-10RA, whereas her mother carries the c.537G > A, P. (Thr 179 =) heterozygous mutation in exon 4 of IL-10RA.<h4>Conclusions</h4>The results show that a compound heterozygous mutation in IL-10RA is associated with neonatal CD. The gene discussed is IL10RA; the disease is Cowden disease.