Is a variant of uncertain significance always 'insignificant'? A systematic review on PRF1 A91V in Hemophagocytic Lymphohistocytosis and comparative analysis with Still's disease.

Ferritin levels were higher in Still’s disease, particularly in MAS cases, reaching median values around 35,000 ng/mL, although the difference versus secondary HLH did not reach statistical significance. The authors did not perform genetic screening, leaving open the possibility that some MAS patients could carry hypomorphic cytotoxic pathway variants such as PRF1 A91V [ 38 ].

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