Laboratory manifestations Patients have significantly increased levels of serum IgE, IgG, and IgA. Additionally, patients have significant leukopenia, lymphopenia, neutropenia, and eosinophilia. Mild defects in T-cell function can also be observed, in addition to an inverted CD4/CD8 ratio
PGM3 deficiency
PMM2 deficiency
LRBA deficiency
NGLY1 deficiency
Factor I deficiency
CDKL5 deficiency disorder
Enolase deficiency
Factor X deficiency