Clinical features suggesting CEDS should be investigated by immunologic studies assessing serum immunoglobulin levels, antibody function, and lymphocyte activation. Patients with CEDS have hypogammaglobulinemia, make poor antibody responses to pneumococcal polysaccharide antigens, and their B cells, T cells, and NK cells do not activate well to stimuli.
Caspase-8 deficiency
Janus kinase 3 deficiency
ZAP70 deficiency
NGLY1 deficiency
LRBA deficiency
Leukocyte adhesion molecule deficiency
CDKL5 deficiency disorder
PMM2 deficiency