{"doi":"10.70962/jhi.20250065","title":"MAGIS syndrome: Phenotypes, pathogenesis, and treatment","abstract":"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 (“Midline malformations of the brain, Anterior pituitary gland dysfunction, Growth retardation, Immunodysregulation/Immunodeficiency, and Skeletal defects”) caused by heterozygous germline-activating mutations in GNAI2 (encoding the heterotrimeric G protein, Gαi2). This disorder demonstrates the central role of Gαi2 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.","journal":"Journal of Human Immunity","year":2025,"id":574484,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9605,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":476875,"name":"Huie Jing","orcid":"0000-0001-6283-3452","position":1,"is_corresponding":false},{"id":1171965,"name":"Eesha Chattopadhyay","orcid":"0009-0003-3051-642X","position":2,"is_corresponding":false},{"id":426522,"name":"Hyoungjun Ham","orcid":"0000-0002-8669-6875","position":3,"is_corresponding":false},{"id":104143,"name":"Yu Zhang","orcid":"0000-0002-6904-0372","position":4,"is_corresponding":false},{"id":231244,"name":"Helen C. Su","orcid":"0000-0002-5582-9110","position":5,"is_corresponding":false},{"id":1218568,"name":"Ian T. Lamborn","orcid":"0009-0006-1490-3667","position":0,"is_corresponding":true}],"reference_count":51,"raw_metadata":null,"created_at":"2026-07-19T02:57:40.686992Z","pmid":"40926810","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}