Table 1.
Deficiency in Mice | Deficiency in Humans | |
---|---|---|
TYK2 | Impaired anti-viral, anti-fungal and anti-bacterial immunity, enhanced lung inflammation | Autosomal recessive hyper-immunoglobulin E |
JAK1 | Perinatally lethal with major deficits in nerve development and lymphopoesis | Deficiency not reported. Acquired gain of function mutations associated with acute leukemia. |
JAK2 | Embryonically lethal due to defective erythropoesis | Deficiency not reported. Germline gain of function mutations associated with inherited polycythaemia, acquired mutations associated with myeloproliferative disease and acute leukemia. |
JAK3 | Severe combined immunodeficiency with lack of T, B and NK cells | Severe combined immunodeficiency with lack of T and NK lymphocytes.
Acquired gain of function mutations associated with acute leukemia |