{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:27:56Z","timestamp":1787236076689,"version":"build-2736575974"},"reference-count":56,"publisher":"American Society for Clinical Investigation","issue":"6","license":[{"start":{"date-parts":[[2025,3,17]],"date-time":"2025-03-17T00:00:00Z","timestamp":1742169600000},"content-version":"vor","delay-in-days":53,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"crossref","award":["NA"],"award-info":[{"award-number":["NA"]}],"id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004099","name":"Ligue Contre le Cancer","doi-asserted-by":"crossref","award":["Ligue 2023"],"award-info":[{"award-number":["Ligue 2023"]}],"id":[{"id":"10.13039\/501100004099","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"crossref","award":["ANR-10IAHU-01"],"award-info":[{"award-number":["ANR-10IAHU-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,17]]},"abstract":"<jats:p>\n                    Oncostatin M (OSM) is a cytokine with the unique ability to interact with both the OSM receptor (OSMR) and the leukemia inhibitory factor receptor (LIFR). On the other hand, OSMR interacts with IL31RA to form the interleukin-31 receptor. This intricate network of cytokines and receptors makes it difficult to understand the specific function of OSM. While monoallelic loss-of-function (LoF) mutations in OSMR underlie autosomal dominant familial primary localized cutaneous amyloidosis, the in vivo consequences of human OSM deficiency have never been reported so far. Here, we identified 3 young individuals from a consanguineous family presenting with inherited severe bone marrow failure syndromes (IBMFS) characterized by profound anemia, thrombocytopenia, and neutropenia. Genetic analysis revealed a homozygous 1 base-pair insertion in the sequence of\n                    <jats:italic>OSM<\/jats:italic>\n                    associated with the disease. Structural and functional analyses showed that this variant causes a frameshift that replaces the C-terminal portion of OSM, which contains the FxxK motif that interacts with both OSMR and LIFR, with a neopeptide. The lack of detection and signaling of the mutant OSM suggests a LoF mutation. Analysis of zebrafish models further supported the role of the OSM\/OSMR signaling in erythroid progenitor proliferation and neutrophil differentiation. Our study provides the previously uncharacterized and unexpectedly limited in vivo consequence of OSM deficiency in humans.\n                  <\/jats:p>","DOI":"10.1172\/jci180981","type":"journal-article","created":{"date-parts":[[2025,1,23]],"date-time":"2025-01-23T12:00:16Z","timestamp":1737633616000},"source":"Crossref","is-referenced-by-count":8,"title":["Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome"],"prefix":"10.1172","volume":"135","author":[{"given":"Alexandrine","family":"Garrigue","sequence":"first","affiliation":[{"name":"Institut Imagine, Universit\u00e9 Paris Cit\u00e9, INSERM UMR1163, Laboratory of Human Lymphohematopoiesis, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"La\u00ebtitia","family":"Kermasson","sequence":"additional","affiliation":[{"name":"INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, \u00c9quipe Labellis\u00e9e LIGUE 2023, Paris, France."},{"name":"Paris 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