|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