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• W4379600246 abstract "<b><i>Introduction:</i></b> Cervical scrofulous lymphadenitis due to <i>Mycobacterium avium</i> complex (MAC) in immunocompetent adults is a rare disease. The presence of MAC infections demands meticulous clinical evaluation of patients along with detailed phenotypic and functional evaluation of their immune system including next-generation sequencing (NGS) analyses of target genes. <b><i>Methods:</i></b> Exact clinical histories of the index patients both suffering from retromandibular/cervical scrofulous lymphadenitis were obtained along with phenotypic and functional immunological evaluations of leukocyte populations followed by targeted NGS-based sequencing of candidate genes. <b><i>Results:</i></b> Immunological investigations showed normal serum immunoglobulin and complement levels, but lymphopenia, which was caused by significantly reduced CD3⁺CD4⁺CD45RO⁺ memory T-cell and CD19⁺ B-cell numbers. Despite normal T-cell proliferation to a number of accessory cell-dependent and -independent stimuli, the PBMC of both patients elaborated clearly reduced levels of a number of cytokines, including IFN-γ, IL-10, IL-12p70, IL-1α, IL-1β, and TNF-α upon TCR-dependent T-cell stimulation with CD3-coated beads but also superantigens. The IFN-γ production deficiency was confirmed for CD3⁺CD4⁺ helper and CD4⁺CD8⁺ cytotoxic T cells on the single-cell level by multiparametric flow cytometry irrespective of whether PMA/ionomycin-stimulated whole blood cells or gradient-purified PBMC was analyzed. In the female patient L1, targeted NGS-based sequencing revealed a homozygous c.110T&gt;C mutation in the interferon-γ receptor type 1 (IFNGR1) leading to significantly reduced receptor expression on both CD14⁺ monocytes and CD3⁺ T cells. Patient S2 presented with normal IFNGR1 expression on CD14⁺ monocytes but significantly reduced IFNGR1 expression on CD3⁺ T cells, despite the absence of detectable homozygous mutations in the IFNGR1 itself or disease-related target genes. Exogenous addition of increasing doses of IFN-γ resulted in proper upregulation of high-affinity FcγRI (CD64) on monocytes from patient S2, whereas monocytes from patient L1 showed only partial induction of CD64 expression after incubation with high doses of IFN-γ. <b><i>Conclusion:</i></b> A detailed phenotypic and functional immunological examination is urgently required to determine the cause of a clinically relevant immunodeficiency, despite detailed genetic analyses." @default.
• W4379600246 created "2023-06-08" @default.
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• W4379600246 date "2023-01-01" @default.
• W4379600246 modified "2023-10-17" @default.
• W4379600246 title "<i>Mycobacterium avium</i> Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic Analyses" @default.
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• W4379600246 doi "https://doi.org/10.1159/000530844" @default.
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