{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lam MT"],"funding":["Associazione Italiana per la Ricerca sul Cancro","Fondazione Bambino Gesù","German Research Foundation","Italian Ministry of Health","Telethon","E-Rare","NIAID NIH HHS","NHGRI NIH HHS","National Institutes of Health","National Human Genome Research Institute","German Federal Ministry of Education and Research"],"pagination":["2778-2799"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6888978"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["216(12)"],"pubmed_abstract":["Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo <i>CDC42</i> mutation (Chr1:22417990C>T, p.R186C) and altered hematopoietic compartment, immune dysregulation, and inflammation. <i>CDC42</i> mutations had been associated with syndromic neurodevelopmental disorders. In"],"journal":["The Journal of experimental medicine"],"pubmed_title":["A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function."],"pmcid":["PMC6888978"],"funding_grant_id":["TGT","UM1HG006542","NSEuroNet","R37 AI067946","National Heart, Lung, and Blood Institute","AH 92/8-1","01GM1902C","R01AI067946","R01 AI067946","R01 AI120989","NET-2011-02350069","IRTG 1902-P6","EUROCID","UM1 HG006542","IG21614","R01AI120989-05"],"pubmed_authors":["Buchholzer M","Diehl M","Chiriaco M","Pannone L","Gibbs RA","De Benedetti F","Krumbach OHF","Rosti V","Brigida I","Cifaldi C","Pantaleoni F","Mace EM","Cao TN","Insalaco A","Chinn IK","Ahmadian MR","Lupski JR","Basso-Ricci L","Putignani L","Bracaglia C","Coban-Akdemir ZH","Palma P","Farina L","Camerini S","Erichsen HC","Carisey AF","Janning P","Bryceson YT","Levi Mortera S","Messia V","Merli P","Ramme K","Cancrini C","Netter P","Jhangiani SN","Dvorsky R","Scala S","Di Rocco M","Locatelli F","Aiuti A","Prencipe G","Conti F","Carsetti R","Tartaglia M","Muzny DM","Martinelli S","Horne A","Niceta M","Finocchi A","Di Cesare S","Ciolfi A","Torralba-Raga L","Stray-Pedersen A","Orange JS","Pastore A","Lam MT","Akbarzadeh M","Coppola S","Pascarella A","Zara E"],"additional_accession":[]},"is_claimable":false,"name":"A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.","description":"Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo <i>CDC42</i> mutation (Chr1:22417990C>T, p.R186C) and altered hematopoietic compartment, immune dysregulation, and inflammation. <i>CDC42</i> mutations had been associated with syndromic neurodevelopmental disorders. In","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Dec","modification":"2026-05-05T02:24:17.069Z","creation":"2020-06-05T07:00:29Z"},"accession":"S-EPMC6888978","cross_references":{"pubmed":["31601675"],"doi":["10.1084/jem.20190147"]}}