NF- ?B Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria

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Jonathan Braue
Vagishwari Murugesan
Steven Holland
Nishit Patel
Eknath Naik
Jennifer Leiding
Abraham Tareq Yacoub
Carlos N Prieto-Granada
John Norman Greene

Keywords

Immunodeficiency, NEMO, rare diseases, mycobacterial Infections

Abstract

NF- ?B essential modulator (NEMO) is a kinase integral to the macrophage TNF-? pathway, which leads to the intracellular destruction of Mycobacteria species. Defects in the NEMO pathway lead to a spectrum of diseases, including but not limited to ectodermal dysplasia, Mendelian susceptibility to mycobacterial diseases, and incontinentia pigmenti. In addition, paucity of NEMO can lead to the inability to mount a proper immune response against opportunistic pyogenic and mycobacterial infections, leading to dissemination to various organ systems. This manuscript will discuss the numerous clinical manifestations of NEMO deficiency, the differential diagnosis for atypical mycobacterial infections in immunocompetent adults, and feature a case report of rare isolated susceptibility to disseminated atypical mycobacteria due to a mutation in the first exon of the NEMO gene.

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