Case Report: X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency and an unusual Aspergillus infection

Abstract

NEMO (NF-kB essential modulator) is a regulatory factor involved in signaling pathways of the innate and adaptative immune systems. Hypomorphic mutation of the NEMO gene (also called IKBKG gene) on the X chromosome leads to X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency. Affected male children present a developmental phenotype with hypotrichosis, hypohydrosis, and hypodontia with conical incisors and susceptibility to pyogenic bacteria, mycobacteria and viruses. Most also have impaired antibody response to polysaccharide antigens. Here we present the case of a 7-year-old boy with disseminated BCGitis and unusual Aspergillus infection who was later diagnosed with a homozygous mutation of the NEMO gene. Appropriate long term anti-mycobacterial medications, prophylactic anti-fungal therapy and current monthly intravenous immunoglobulin (IVIG) stabilized the patient’s condition and has significantly improved his general health. High incidence of atypical mycobacterial infection in such cases emphasize the need for prophylaxis. In conclusion, attention to gender, pattern of infections, and precise physical exam helped us to diagnose and appropriately manage this case. We propose prophylactic therapy for mycobacterial and opportunistic infections after the confirmation of homozygous NEMO gene mutation.