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The three patients developed complications following live attenuated measles-mumps-rubella (MMR) vaccine, including hemophagocytic lymphohistiocytosis (HLH) in one patient, who responded to treatment with intravenous immunoglobulins (IVIG), steroids, and ruxolitinib (JAK-STAT inhibitor). The patients are now 36, 33, and 3 years old and healthy on prophylaxis with cotrimoxazole and itraconazole (P1), cotrimoxazole (P2), or IVIG (P3). The STAT2 K490Qfs*41 and c.941+1G&amp;gt;T mutant alleles do not encode detectable and functional STAT2 proteins, and the patients\u2019 primary cells do not respond to type I IFNs. STAT2 deficiency should be considered in patients with severe adverse reactions to MMR vaccination, and the use of targeted anti-inflammatory drugs like ruxolitinib should be further explored to control hyperinflammation.<\/jats:p>","DOI":"10.70962\/jhi.20260037","type":"journal-article","created":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T06:22:01Z","timestamp":1781245321000},"update-policy":"https:\/\/doi.org\/10.70962\/jhi.crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Two novel kindreds with autosomal recessive STAT2 deficiency"],"prefix":"10.70962","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-5476-2257","authenticated-orcid":true,"given":"Verena","family":"Kienapfel","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05f950310","id-type":"ROR","asserted-by":"publisher"}],"name":"Immunology and Transplantation, KU Leuven 1 Laboratory of Inborn Errors of Immunity, Department of Microbiology, ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-1733-4572","authenticated-orcid":true,"given":"Lotte","family":"Cresens","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05f950310","id-type":"ROR","asserted-by":"publisher"}],"name":"Immunology and Transplantation, KU Leuven 1 Laboratory of Inborn Errors of Immunity, Department of Microbiology, ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9163-9122","authenticated-orcid":true,"given":"Lucy","family":"Bizien","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05tr67282","id-type":"ROR","asserted-by":"publisher"}],"name":"Necker Branch, INSERM U1163, Necker Hospital for Sick Children 2 Laboratory of Human Genetics of Infectious Diseases, , Paris,","place":["France"]},{"id":[{"id":"https:\/\/ror.org\/05tr67282","id-type":"ROR","asserted-by":"publisher"}],"name":"Imagine Institute, Paris Cit\u00e9 University 3 , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7315-5703","authenticated-orcid":true,"given":"Julia","family":"Vasconcelos","sequence":"additional","affiliation":[{"name":"University Hospital Center of Porto 4 Pathology, Immunology Department, , Porto,","place":["Portugal"]},{"id":[{"id":"https:\/\/ror.org\/043pwc612","id-type":"ROR","asserted-by":"publisher"}],"name":"Institute of Biomedical Sciences Abel Salazar, University of Porto 5 Unit for Multidisciplinary Research in Biomedicine, , Porto,","place":["Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2771-851X","authenticated-orcid":true,"given":"Marwa","family":"Chbihi","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05tr67282","id-type":"ROR","asserted-by":"publisher"}],"name":"Inserm U1163, Necker-Enfants Malades Hospital, Assistance Publique - 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