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,...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
JCDR Research and Publications Private Limited
2023-10-01
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Series: | Journal of Clinical and Diagnostic Research |
Subjects: | |
Online Access: | https://www.jcdr.net/articles/PDF/18559/65845_CE[Ra1]_F[SK]_PF1(KB_SL)_PFA(KB_KM)_PN(KM).pdf |