Objective      To explore the clinical features and NEMO gene mutation in a boy with ectodermal dysplasia and immunodeficiency (EDA-ID)．       Methods      According to the patient’s clinical presentation and family history

the integrity of the IL-12/IFN-γ axis was detected by Q-RT-PCR after ruling out the common primary immunodeficiency disease (PID)

and then NEMO gene was sequenced．      Results      The patient showed recurrent fever

pale skin

sparse hair

mild frontal bossing

and fungus and BCG

infections. The X-ray of the head revealed no obvious tooth germ. The expression of IL-12B mRNA in the whole blood cells was reduced more after stimulation with BCG plus IFN-γ than BCG alone (P0.05). NEMO gene sequencing analysis found 1241TA substitution mutation in exon 10

predicting valine-to-aspartic acid missense mutation at the 414

th

amino acid site (p.V414D). The mother and one of her sisters had heterozygous mutations at the same site.       Conclusion      Male children with BCG infections and recurrent fever should be considered to have mutation of NEMO gene

especially when there are some ectodermal dysplasia phenotypes such as pale and dry skin without sweat

sparse hair and no teeth. Matrilineal family history of incontinentia pigmenti is helpful to diagnosis. EDA-ID can be diagnosed early by combining the integrity test of IL-12/IFN-γ axis and genetic analysis.