{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T03:31:54Z","timestamp":1792812714967,"version":"4.5.0"},"reference-count":52,"publisher":"Rockefeller University Press","issue":"4","license":[{"start":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T00:00:00Z","timestamp":1755129600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1ZIAAI001059"],"award-info":[{"award-number":["1ZIAAI001059"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,11,3]]},"abstract":"<jats:p>Inborn errors of immunity (IEI) presenting with immunodeficiency and autoimmunity can illuminate pathways essential for immunocompetence and self-tolerance. We recently characterized a new IEI named MAGIS (\u201cMidline malformations of the brain, Anterior pituitary gland dysfunction, Growth retardation, Immunodysregulation\/Immunodeficiency, and Skeletal defects\u201d) caused by heterozygous germline-activating mutations in GNAI2 (encoding the heterotrimeric G protein, G\u03b1i2). This disorder demonstrates the central role of G\u03b1i2 regulation of chemotaxis in humans and a novel pathway by which G proteins regulate T cell activation. Here, we review the clinical features, current genetic and biochemical understanding, and future therapeutic considerations for this new syndromic immune dysregulation disorder.<\/jats:p>","DOI":"10.70962\/jhi.20250065","type":"journal-article","created":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T06:21:22Z","timestamp":1753510882000},"update-policy":"https:\/\/doi.org\/10.70962\/jhi.crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["MAGIS syndrome: Phenotypes, pathogenesis, and treatment"],"prefix":"10.70962","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-1490-3667","authenticated-orcid":true,"given":"Ian T.","family":"Lamborn","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/043z4tv69","id-type":"ROR","asserted-by":"publisher"}],"name":"Lymphocyte Biology Section, Laboratory of Immune System Biology, Intramural Research Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) 1 , Bethesda, MD,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6283-3452","authenticated-orcid":true,"given":"Huie","family":"Jing","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/043z4tv69","id-type":"ROR","asserted-by":"publisher"}],"name":"Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Intramural Research Program, NIAID, NIH 2 , Bethesda, MD,","place":["USA"]},{"id":[{"id":"https:\/\/ror.org\/043z4tv69","id-type":"ROR","asserted-by":"publisher"}],"name":"NIAID Clinical Genomics Program, Intramural Research Program, NIAID, NIH 3 , Bethesda, MD,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0480-6587","authenticated-orcid":true,"given":"Eesha","family":"Chattopadhyay","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/043z4tv69","id-type":"ROR","asserted-by":"publisher"}],"name":"Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Intramural Research Program, NIAID, NIH 2 , Bethesda, MD,","place":["USA"]},{"id":[{"id":"https:\/\/ror.org\/043z4tv69","id-type":"ROR","asserted-by":"publisher"}],"name":"NIAID Clinical Genomics Program, Intramural Research Program, NIAID, NIH 3 , Bethesda, MD,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8669-6875","authenticated-orcid":true,"given":"Hyoungjun","family":"Ham","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/043z4tv69","id-type":"ROR","asserted-by":"publisher"}],"name":"Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Intramural Research Program, NIAID, NIH 2 , Bethesda, MD,","place":["USA"]},{"name":"Mayo Clinic 4 Department of Urology, , Rochester, MN,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6904-0372","authenticated-orcid":true,"given":"Yu","family":"Zhang","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/043z4tv69","id-type":"ROR","asserted-by":"publisher"}],"name":"Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Intramural Research Program, NIAID, NIH 2 , Bethesda, MD,","place":["USA"]},{"id":[{"id":"https:\/\/ror.org\/043z4tv69","id-type":"ROR","asserted-by":"publisher"}],"name":"NIAID Clinical Genomics Program, Intramural Research Program, NIAID, NIH 3 , Bethesda, MD,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5582-9110","authenticated-orcid":true,"given":"Helen C.","family":"Su","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/043z4tv69","id-type":"ROR","asserted-by":"publisher"}],"name":"Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Intramural Research Program, NIAID, NIH 2 , Bethesda, MD,","place":["USA"]},{"id":[{"id":"https:\/\/ror.org\/043z4tv69","id-type":"ROR","asserted-by":"publisher"}],"name":"NIAID Clinical Genomics Program, Intramural Research Program, NIAID, NIH 3 , Bethesda, MD,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2025,8,14]]},"reference":[{"key":"2025082511070302000_bib1","doi-asserted-by":"publisher","DOI":"10.70962\/jhi.20250002","article-title":"The 2024 update of IUIS phenotypic classification of human inborn errors of immunity","volume":"1","author":"Bousfiha","year":"2025","journal-title":"J. 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