JAK3-deficient severe combined immunodeficiency

JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood.

Other names

Autosomal recessive T cell-negative, B cell-positive, NK cell-negative severe combined immunodeficiency; Autosomal recessive T-B+NK- SCID; JAK3 SCID; T cell-negative, B cell-positive, NK cell-negative SCID; T-B+ severe combined immunodeficiency due to JAK3 deficiency

Inheritance pattern

Autosomal recessive

Related genes

JAK3

Source: MedlinePlus Genetics, U.S. National Library of Medicine.