The treatment for JAK3 deficiency is allogeneic hematopoietic stem cell transplantation, which has been demonstrated to be life-saving for affected patients. Another option is gene therapy that has the potential to become an alternative treatment for JAK3 deficiency. Because of the clinical and biochemical similarities between JAK3 deficiency and X-linked severe combined immunodeficiency, genetic correction and engraftment of autologous hematopoietic stem cells can presume restoring of immunity in JAK3-deficient patients.
Janus kinase 3 deficiency
WNT4 deficiency
GATA2 deficiency
NGLY1 deficiency
ZC4H2 deficiency
Caspase-8 deficiency
LRBA deficiency
ZAP70 deficiency