Atypical immune dysfunction in G6PD deficiency: a case of mosaic neutrophil oxidative burst.
Henry Pham, Srividya Sridhara
✦ AI-curated · Sources linked
Case in brief
A 50-year-old woman with recurrent infections, including multiple pneumonias, and a history of splenectomy was found to carry G6PD c.202G > A and c.376A > G variants. Red-cell G6PD activity was 2.6 U/g Hb, corresponding to 30% or less activity and previously classified as WHO class III. Neutrophil oxidative-burst testing showed both normal and abnormal granulocyte fluorescence, indicating a mosaic pattern. The report describes this finding as evidence of possible clinically relevant neutrophil dysfunction in G6PD deficiency.
What made this case unusual
The mosaic dihydrorhodamine pattern resembled that seen in X-linked chronic granulomatous disease, despite the diagnosis of G6PD deficiency. The authors suggest that variable X-inactivation and cis-acting regulatory elements may contribute to this pattern.
Diagnostic / clinical pearl
A mosaic neutrophil oxidative-burst result can occur in G6PD deficiency and may mimic X-linked chronic granulomatous disease; interpret it alongside genetic findings and enzyme activity.
Why it matters
Lyonization ratios may differ between hematopoietic lineages, so red-cell enzyme activity alone may not reflect neutrophil function.