Clinical and immunological characteristics of a case with NEMO-ID
CHEN Zhi
SONG Xuerui
XUE Xiuhong
CHEN Xuemei
JIA Yanjun
ZHOU Li'na
ZHAO Xiaodong
Abstract：To investigate the clinical characteristics, gene mutation and immunological features of a 7 years old male patient who suffered from recurrent infection, lymph node enlargement without ectodermal dysplasia, the immunologic screening, high-throughput sequencing of immune-related genes, NEMO protein detection and lymphocyte proliferation analysis were conducted in a patient with recurrent fever, bronchopneumonia and cervical lymphadenopathy. Data showed the patient carried a heterozygous G>A substitution located in exon 9 splicing site (21819) resulting in false mRNA splicing, which led to significantly reduce of NEMO protein expression dramatically impair of B cell proliferation as compared with parents. Mother of the patient was identified as heterozygous carriers of the same mutation. In conclusion, a NEMO-ID patient with a splicing mutation of IKBKG gene has been firstly identified in China. For patients who have recurrent infections, even without the typical clinical symptoms such as ectodermal dysplasia, Nemo-ID should be considered and assessment for immune function, genetic sequencing should be done. Rigorous analysis of the sequence's raw data can be helpful for the final diagnosis due to pseudogenes may interfere with high-throughput sequencing.
Keywords：Primary immunodeficiency diseasesEctodermal dysplasiaNF-κBEssential modulatorPseudogene
Publication Date：2019-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 428-433 )