title: Familial Hemophagocytic Lymphohistiocytosis due to Mutation of UNC13D Gene.
abstract: Hemophagocytic lymphohistiocytosis (HLH) are basically a heterogenous group of clinical syndromes, characterised by activation and non-malignant proliferation of benign histiocytes i.e. lymphocytes and macrophages, leading to a cytokine storm that accounts for the fever, organomegaly and multi-organ dysfunction. Two types of HLH are described, either due to known genetic defect (familial HLH/FHL) or due to some acquired cause either infection or rheumatological diseases. Here we present a case of a 3 months old baby, admitted with fever, hepatosplenomegaly and cytopenia and ultimately was diagnosed to be a case of Familial HLH type 3 due to defect in UNC13D gene as a result of compound heterozygous for two nonsense mutation resulting in the Munc13-4 protein defect.
authors.affiliation: Institute of Child Health, Kolkata, India ; Flat C1, Anandan,173, Sarat Ghosh Garden Road, Kolkata, 700031 West bengal India.
authors.forename: Prabhas Prasun
authors.initials: PP
authors.lastname: Giri
authors.affiliation: Institute of Child Health, Kolkata, India.
authors.forename: Nirmoy
authors.initials: N
authors.lastname: Biswas
authors.affiliation: Institute of Child Health, Kolkata, India.
authors.forename: Swati
authors.initials: S
authors.lastname: Chakravarty
keywords: Cytopenia; Familial HLH; Hemophagocytes; Hepatosplenomegaly