{"entity": "publication", "iuid": "182e6aed60fd4f9d98929d3a67a46248", "timestamp": "2026-05-09T18:04:29.005Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/182e6aed60fd4f9d98929d3a67a46248.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/182e6aed60fd4f9d98929d3a67a46248"}}, "title": "Identification of germline variants in adults with hemophagocytic lymphohistiocytosis.", "authors": [{"family": "Miller", "given": "Peter G", "initials": "PG"}, {"family": "Niroula", "given": "Abhishek", "initials": "A"}, {"family": "Ceremsak", "given": "John J", "initials": "JJ"}, {"family": "Gibson", "given": "Christopher J", "initials": "CJ"}, {"family": "Taylor", "given": "Martin S", "initials": "MS"}, {"family": "Birndt", "given": "Sebastian", "initials": "S"}, {"family": "Perner", "given": "Florian", "initials": "F"}, {"family": "Arnason", "given": "Jon", "initials": "J"}, {"family": "Sperling", "given": "Adam S", "initials": "AS"}, {"family": "Agrawal", "given": "Mridul", "initials": "M"}, {"family": "Schram", "given": "Alison M", "initials": "AM"}, {"family": "Nikiforow", "given": "Sarah", "initials": "S"}, {"family": "Pihan", "given": "German", "initials": "G"}, {"family": "Hasserjian", "given": "Robert P", "initials": "RP"}, {"family": "Aster", "given": "Jon C", "initials": "JC"}, {"family": "La Ros\u00e9e", "given": "Paul", "initials": "P"}, {"family": "Morgan", "given": "Elizabeth A", "initials": "EA"}, {"family": "Berliner", "given": "Nancy", "initials": "N"}, {"family": "Ebert", "given": "Benjamin L", "initials": "BL"}], "type": "journal article", "published": "2020-03-10", "journal": {"title": "Blood Adv", "issn": "2473-9529", "volume": "4", "issue": "5", "pages": "925-929", "issn-l": null}, "abstract": "Some germline variants are predicted to disrupt protein function in HLH-associated genes. Such variants are neither enriched in adult-onset HLH nor associated with specific clinical or laboratory features of HLH.", "doi": "10.1182/bloodadvances.2019001272", "pmid": "32150605", "labels": {"Abhishek Niroula": null, "DDLS Fellow": null}, "xrefs": [{"db": "pmc", "key": "PMC7065469"}, {"db": "pii", "key": "S2473-9529(20)31457-9"}], "notes": [], "created": "2023-11-20T11:21:49.546Z", "modified": "2023-11-20T11:21:49.555Z"}