{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["8"],"submitter":["Giardino G"],"pubmed_abstract":["Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory condition. Variants in different genes have been associated with the familial forms of the syndrome (FHL), usually presenting within the first 2 years of life. Due to increasing awareness of the signs and symptoms of HLH and a better understanding of the genetic basis of the disease, FHL has been increasingly diagnosed in patients presenting beyond infancy. Here, we report on two brothers with atypical, late-onset HLH in which whole exome sequencing revealed a homozygous pathogenic <i>UNC13D</i> variant. In the first brother, the clinical phenotype was dominated by a massive lung involvement. In the second brother a progressive neurological deterioration was observed. In both cases, the clinical manifestation"],"journal":["Frontiers in immunology"],"pagination":["1892"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5742579"],"repository":["biostudies-literature"],"pubmed_title":["Two Brothers with Atypical <i>UNC13D-</i>Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement."],"pmcid":["PMC5742579"],"pubmed_authors":["Palma P","Saunders C","Pignata C","Valeriani M","Giardino G","De Luca M","Romano R","Cirillo E","Cancrini C","Papetti L"],"additional_accession":[]},"is_claimable":false,"name":"Two Brothers with Atypical <i>UNC13D-</i>Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement.","description":"Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory condition. Variants in different genes have been associated with the familial forms of the syndrome (FHL), usually presenting within the first 2 years of life. Due to increasing awareness of the signs and symptoms of HLH and a better understanding of the genetic basis of the disease, FHL has been increasingly diagnosed in patients presenting beyond infancy. Here, we report on two brothers with atypical, late-onset HLH in which whole exome sequencing revealed a homozygous pathogenic <i>UNC13D</i> variant. In the first brother, the clinical phenotype was dominated by a massive lung involvement. In the second brother a progressive neurological deterioration was observed. In both cases, the clinical manifestation","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017","modification":"2025-04-26T07:38:12.807Z","creation":"2019-03-27T03:05:43Z"},"accession":"S-EPMC5742579","cross_references":{"pubmed":["29312353"],"doi":["10.3389/fimmu.2017.01892"]}}