It is characterized by a lack of CD8+ T cells and the presence of circulating CD4+ T cells which are unresponsive to T-cell receptor (TCR)-mediated stimuli. Diagnosis is usually made within the first six months of life. Genetic testing is required.
ZAP70 deficiency
DOCK8 deficiency
PMM2 deficiency
Janus kinase 3 deficiency
ZC4H2 deficiency
WNT4 deficiency
NGLY1 deficiency
Caspase-8 deficiency