Hemophagocytic Lymphohistiocytosis Caused by a Novel ZNFX1 Variant.
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.