Severe combined immunodeficiency T- B+ due to JAK3 deficiency (Q97588): Difference between revisions

Severe combined immunodeficiency T- B+ due to JAK3 deficiency is an autosomal recessive form of severe combined immune deficiency (SCID). It is characterised by lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. JAK3-deficient patients present with the classical clinical features of SCID in the first few months of life, i.e. chronic diarrhoea, failure to thrive, recurrent respiratory infection and/or generalised infections from opportunistic pathogens, or signs of graft-versus-host reaction (skin rash, abnormalities of liver function, pancytopenia) from transplacental acquired maternal T cells.