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hajer ayasreh
Public Documents
1
Hemophagocytic Lymphohistiocytosis Caused by a Novel ZNFX1 Variant.
suleimman Al-Sweedan
and 6 more
January 31, 2024
Objective: We report this case of a 2.5 months old infant diagnosed with HLH with an autosomal recessive ZNFX1 related immune-hematological abnormalities in order to provide more information regarding the genetic and clinical manifestations concerning this disorder. Method: Medical file of the patient was reviewed including; patient profile, lab results, and management. Results: we present a unique case of a 2.5 months HLH patient that presented with a unique genetic variant with a mutated ZNFX1 gene. Conclusion: we report a homozygous ZNFX1 variant as the base of HLH in this patient. HLH proposes a diagnostic challenge as its signs and symptoms are concurrent with other differentials.