08-10-2017, 01:47 PM
Presents in babyhood with severe combined immunodeficiency.(Autosomal Recessive Variant)
Also called SEVERE COMBINED IMMUNODEFICIENCY. Can be recessive or dominant. Purine salvage Deficiencies
NSTx. Bone Marrow transplant, and very recently, gene transfer, are used to treat this otherwise fatal condition.
SCID is Assoc. with deficiencies of both B and T cells due to defect in differentiation on an early stem cell.
50% are caused by defect X chromosome, resulting in a defective IL - 2 receptor (Autosomal Recessive Pattern).
Deficiency of Adenosine Deaminase that toxic B and T cells. Pt usually die within the first 2 years of life.
Also called SEVERE COMBINED IMMUNODEFICIENCY. Can be recessive or dominant. Purine salvage Deficiencies
NSTx. Bone Marrow transplant, and very recently, gene transfer, are used to treat this otherwise fatal condition.
SCID is Assoc. with deficiencies of both B and T cells due to defect in differentiation on an early stem cell.
50% are caused by defect X chromosome, resulting in a defective IL - 2 receptor (Autosomal Recessive Pattern).
Deficiency of Adenosine Deaminase that toxic B and T cells. Pt usually die within the first 2 years of life.