Children with this condition typically present with infections and skin rashes. Unlike many forms of SCID, absolute lymphocyte count is normal and thymus is present.
ZAP70 deficiency
DOCK8 deficiency
PMM2 deficiency
Janus kinase 3 deficiency
ZC4H2 deficiency
WNT4 deficiency
NGLY1 deficiency
Caspase-8 deficiency