Thursday 16 June 2011
T-, B+, NK- X-linked severe combined immunodeficiency (SCID) is caused by mutation in the gene encoding the gamma subunit of the interleukin-2 receptor (IL2RG; MIL.308380).
X-linked combined immunodeficiency (MIM.312863) is a less severe form of the disorder that is also caused by mutation in the IL2RG gene.
autosomal recessive SCID (MIM.601457)
- An autosomal recessive form of T-, B+, NK- SCID (MIM.600802) is caused by mutation in the JAK3 gene (MIM.600173) on chromosome 19p13. (JAK3-associated SCID)