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Disseminated BCG Infection Mimicking Metastatic Nasopharyngeal Carcinoma in an Immunodeficient Child with a Novel Hypomorphic NEMO Mutation
Authors:Masaru Imamura  Tomoki Kawai  Satoshi Okada  Kazushi Izawa  Takayuki Takachi  Haruko Iwabuchi  Sakiko Yoshida  Ryosuke Hosokai  Hirokazu Kanegane  Tatsuo Yamamoto  Hajime Umezu  Ryuta Nishikomori  Toshio Heike  Makoto Uchiyama  Chihaya Imai
Affiliation:Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-Dori, Chuo-ku, Niigata, 951-8510, Japan.
Abstract:

Background

Nuclear factor-??B essential modulator (NEMO) deficiency is a developmental and immunological disorder. The genetic and phenotypic correlation has been described.

Methods

We report a unique clinical presentation and the identification of a novel missense mutation in the NEMO gene in a 3-year-old boy with bacillus Calmette-Guerin (BCG) infection.

Results

The patient presented with fever, cervical lymphadenopathy, and abnormal anti-Epstein?CBarr virus (EBV) antibody titers, suggestive of EBV-related diseases including chronic active EBV infection, X-linked lymphoproliferative syndrome, or nasopharyngeal carcinoma. Although the biopsy specimen from a nasopharyngeal lesion was initially diagnosed as squamous cell carcinoma, this was changed to disseminated BCG infection involving the nasopharynx, multiple systemic lymph nodes, and brain. A novel mutation (designated D311E) in the NEMO gene, located in the NEMO ubiquitin-binding (NUB) domain, was identified as the underlying cause of the immunodeficiency. Impaired immune responses which are characteristic of patients with NEMO deficiency were demonstrated. The patient underwent successful unrelated bone marrow transplantation at 4.9 years of age.

Conclusion

This study suggests the importance of the NUB domain in host defense against mycobacteria. The unique presenting features in our patient indicate that a hypomorphic NEMO mutation can be associated with atypical pathological findings of the epithelial tissues in patients with BCG infection.
Keywords:
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