biostudies-literatureUnknown8Giardino GHemophagocytic 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 manifestationFrontiers in immunology1892https://www.ebi.ac.uk/biostudies/studies/S-EPMC5742579biostudies-literatureTwo Brothers with Atypical <i>UNC13D-</i>Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement.PMC5742579Palma PSaunders CPignata CValeriani MGiardino GDe Luca MRomano RCirillo ECancrini CPapetti LfalseTwo Brothers with Atypical <i>UNC13D-</i>Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement.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 manifestation2017-01-01T00:00:00Z20172025-04-26T07:38:12.807Z2019-03-27T03:05:43ZS-EPMC57425792931235310.3389/fimmu.2017.01892