Disseminated BCG Infection Mimicking Metastatic Nasopharyngeal Carcinoma in an Immunodeficient Child with a Novel Hypomorphic NEMO Mutation

Abstract

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.

Successful hematopoietic cell transplantation in patients with unique NF-κB essential modulator (NEMO) mutations

“…To the preexisting reports, this report adds the second allo-HSCT in a NEMO-deficient patient without ectodermal dysplasia. The first report by Imamura et al 10 documented a favorable outcome as well. It is currently unknown whether absence of ectodermal dysplasia influences transplant outcomes in patients with IKBKG mutations, but this report provides further information to consider as a favorable prognostic indicator.…”

“…[1][2][3][7][8][9][10] Six of the patients were reported to have survived at the time of their respective publication. Here, we add an additional two patients who achieved long-term survival.…”

Hematopoietic stem cell transplantations for primary immune deficiencies associated with NFκB mutations: A review of the literature

“…Between 2002 and 2016, 13 patients with XL-EDA-ID were reported to have undergone HSCT (Dupuis-Girod et al 2002;Orange et al 2004;Tono et al 2007;Mancini et al 2008;Pai et al 2008;Salt et al 2008;Fish et al 2009;Minakawa et al 2009;Permaul et al 2009;Imamura et al 2011;Kawai et al 2012;Abbott et al 2014;Carlberg et al 2014;Klemann et al 2016). A summary of patient characteristics prior to HSCT can be found in Table 1.…”

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

“…Clinical details of patients 3, 4, and 10 have been reported previously. [18][19][20] These patients had clinical phenotypes characteristic of XL-EDA-ID such as ectodermal dysplasia, innate and/or acquired immunity defects, and susceptibility to pyogenic bacteria and Mycobacterium infection. Every patient had a mutation in the NEMO gene that caused reduced NF-B activation in a NEMO reconstitution assay, as described in "Proliferation of NEMO normal and NEMO low T cells."…”