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Loss-of-function (LOF) heterozygous mutations impair interferon (IFN) signaling, predisposing to Mendelian susceptibility to mycobacterial diseases (MSMDs). This study characterizes a novel STAT1 LOF mutation in a patient with multisystem manifestations. A patient presenting with mycobacterial infection, skeletal abnormalities, and systemic inflammation underwent whole-exome sequencing. The identified STAT1 variant was analyzed via computational tools (PolyPhen-2\/SIFT). Molecular biological validation included IFN-\u03b1\/\u03b3-induced STAT1 phosphorylation assays and fluorescence microscopy for subcellular localization. Clinical features included mycobacterial osteomyelitis, severe rash, dwarfism, hepatosplenomegaly, and elevated inflammatory markers (C-reactive protein\/erythrocyte sedimentation rate). A heterozygous STAT1 mutation (NM_007315.4:c.2120T&gt;C; p.Ile707Thr) was identified and predicted as pathogenic. Mutant cells showed reduced STAT1 phosphorylation (64% versus wild-type,\n                    <jats:italic toggle=\"yes\">P<\/jats:italic>\n                    &lt; 0.05) and impaired nuclear translocation post-IFN-\u03b1\/\u03b3 stimulation. Antibiotic therapy achieved clinical resolution without complications. These findings indicated that the STAT1 I707T mutation disrupts IFN-\u03b1\/\u03b3 immunity, expanding the MSMD genotypic spectrum. Genetic screening for STAT1 defects is critical in patients with mycobacterial infections involving skin. Molecular biological studies corroborate mutation pathogenicity, guiding therapeutic decisions.\n                  <\/jats:p>","DOI":"10.1177\/10799907251389756","type":"journal-article","created":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:36:41Z","timestamp":1761007001000},"page":"385-393","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Severe Impairment of IFN-\u03b1 and IFN-\u03b3 Responses in Cells of a Patient with a Rare STAT1 Tail Segment Domain Mutation"],"prefix":"10.1177","volume":"45","author":[{"given":"Jing","family":"Xiao","sequence":"first","affiliation":[{"name":"Department of Paediatrics, The Affiliated Hospital of Guangdong Medical University, Zhanjiang, People\u2019s Republic of China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiapeng","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, The Affiliated Hospital of Guangdong Medical University, Zhanjiang, People\u2019s Republic of China."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"key":"e_1_3_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2012.04.011"},{"key":"e_1_3_5_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21197034"},{"key":"e_1_3_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2020.06.034"},{"key":"e_1_3_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02120-y"},{"key":"e_1_3_5_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1142963"},{"key":"e_1_3_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2012.03.016"},{"key":"e_1_3_5_8_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.161.7.3315"},{"key":"e_1_3_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-019-00688-3"},{"key":"e_1_3_5_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1061154"},{"key":"e_1_3_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01419-x"},{"key":"e_1_3_5_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2091-13-20"},{"key":"e_1_3_5_13_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.16.5662-5668.2002"},{"key":"e_1_3_5_14_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2013.083741"},{"key":"e_1_3_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm909"},{"key":"e_1_3_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2021.11.036"},{"key":"e_1_3_5_17_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1485406"},{"key":"e_1_3_5_18_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.268003"},{"key":"e_1_3_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2021.02.009"},{"key":"e_1_3_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2010.02.009"},{"key":"e_1_3_5_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-020-00847-x"},{"key":"e_1_3_5_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01396-1"},{"key":"e_1_3_5_23_1","volume-title":"Tietz Textbook of Clinical Chemistry and Molecular Diagnostics","author":"Rifai N","year":"2022","unstructured":"Rifai N, , Horvath AR, , Wittwer CT., eds. 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