Novel STXBP2 Mutation Causing Familial Haemophagocytic Lymphohistiocytosis Type 5 in a Preterm Neonate with Fatal Outcome: A Case Report

Novel STXBP2 Mutation Causing Familial Haemophagocytic Lymphohistiocytosis Type 5 in a Preterm Neonate with Fatal Outcome: A Case Report

Familial Haemophagocytic Lymphohistiocytosis (FHL) is an autosomal recessive disorder characterised by a hyperinflammatory state due to widespread infiltration of organs with macrophages and lymphocytes. Haemophagocytic Lymphohistiocytosis (HLH) presents with fever, hepatosplenomegaly, cytopenia,...

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Bibliographic Details
Main Authors: Laxman Basany, Vinay Batthula, Priyanka Naga Gandrakota, Navya Mamidi, Upparpally Pooja Reddy
Format: Article
Language:English
Published: JCDR Research and Publications Private Limited 2023-10-01
Series:Journal of Clinical and Diagnostic Research
Subjects:
bicytopenia
haemophagocytosis
immunodeficiency
neonatal sepsis
stem cell transplantation
Online Access:https://www.jcdr.net/articles/PDF/18559/65845_CE[Ra1]_F[SK]_PF1(KB_SL)_PFA(KB_KM)_PN(KM).pdf

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