Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities.
Yuka Okawa, Toshiki Tsunogai, Naoya Saijo et al.
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Case in brief
A 53-day-old boy presented with poor feeding and fever. He had distinctive facial features, hyperphosphatasia, and reduced complement levels, with recurrent fever and infections during a 2.5-month admission. Whole-genome sequencing identified compound heterozygous PIGW variants, and flow cytometry showed markedly reduced CD16 expression on granulocytes, supporting a diagnosis of inherited GPI deficiency. CH50, C3, and C4 remained low, while immune complexes were elevated; the authors suggested these findings may reflect complement activation secondary to infection.
What made this case unusual
The case combined PIGW-related GPI deficiency with persistent low complement levels and elevated immune complexes, findings the authors considered potentially associated with recurrent infections.
Diagnostic / clinical pearl
In an infant with recurrent infections and features of GPI deficiency, markedly reduced granulocyte CD16 expression can support the diagnosis; complement abnormalities may accompany the infectious episodes.
Why it matters
The relationship between infection, complement activation, and GPI biosynthesis remains unclear and warrants further study.