Detection of a New NFKB1 Frameshift Mutation Associated with Primary Immunodeficiency Diseases

Conclusions: Our findings broaden the scope of phenotypes caused by mutations in NFKB1. We suspect that this heterozygous mutation of NFKB1 may lead to fewer immunoglobulins produced.Onset was delayed for this patient, at the age of 20. His son is 25 years old now, with moderately reduced levels of IgG but without symptoms. We suspect that he may be ill in the future and recommended that he seek genetic counseling when he is ready to have a child.DisclosuresNo relevant conflicts of interest to declare.

Source: Blood - November 21, 2018 Category: Hematology Authors: Liu, A., Feng, Q., Wang, S., Hua, M., Hou, Y., Zuo, X., Hou, M., Meng, G., Peng, J. Tags: 203. Lymphocytes, Lymphocyte Activation, and Immunodeficiency, including HIV and Other Infections: Poster II Source Type: research