Abstract
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Disseminated non-tuberculous mycobacterial infections occurring in a young patient should raise the suspicion of an underlying primary immunodeficiency
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First line investigations should comprise a search for mendelian susceptibility to mycobacterial disease (MSMD), in particular IL-12:IFN-γ loop defects
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Patients with acquired defects that could disrupt the IFN-γ-associated immune pathway, such as pathological presence of anti-IFN-γ autoantibodies with neutralizing capacity, display a similar immunodeficiency picture to MSMD
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Ying, M.N.G., Gan, E.Y., Koh, J.A.M. (2020). Painful Skin Nodules, Prolonged Fever and Cervical Lymphadenopathy. In: Rahmani, F., Rezaei, N. (eds) Pediatric Autoimmunity and Transplantation. Springer, Cham. https://doi.org/10.1007/978-3-030-26280-8_34
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