Soroori-Motlagh Nastaran 200705 (SCID)
Soroori-Motlagh Nastaran 200705 (SCID)
History of SCID
First discovered by Glanzmann and Riniker in 1950 Swiss infants with the condition were very lymphopenic and died of infection before their first birthdays Within years, differences were noted in inheritance patterns for SCID More than one cause was noted for this fatal syndrome characterized by the absence of T-cells and all adaptive immunity
Bubble Boy
David Vetter
Symptoms of SCID
Recurrent infections-constantly the infant has new infections (i.e. pneumonia, meningitis, chickenpox, measles, and sepsis) Ear infections, sinus infections, chronic cough, thrush infections, diarrhea, liver infection, and rashes on the skin are more frequent Blood disorders, middle ear inflammation, weight loss, weakness, retarded growth, absent tonsils, absent lymphoid organs, lack of lymphocytes, and cold sores These symptoms do not directly confirm SCID, however, the recurrence of these symptoms with further testing can lead to the diagnosis of SCID
Cause of SCID:Inheritance
The most common form of SCID exhibits an Xlinked recessive pattern of inheritance, and is therefore referred to as X-linked SCID When a gene is located on the X chromosome, males are more often affected than females Males do not have a second X chromosome to compensate for the defective one They only need to inherit one bad copy of the gene to have the symptoms of the disorder
Inheritance Patterns
Lymphocytes Photos
B Cells
T Cells
IL2RG Gene
Treatment Continued
It contains antibodies that would normally be made by healthy B cells to help the body fight infection Immune globulin is usually infused into a vein Patients require IVIG infusions once every 3-4 weeks (each infusion may take from one to five hours) Side effects: chills, headaches, fever, nausea and chest tightness
Treatment: Transplant
The only known cure for SCID is a bone marrow or cord blood transplant (also called a BMT) This procedure replaces the child's abnormal blood-forming cells and immune system with healthy blood-forming cells from a family member or unrelated donor or cord blood unit The donor must closely match the patients tissue type The best donor is usually a matched sibling
Identifications of SCID
Newborn screening tests Nearly all babies will have a blood test to check for disorders that are not apparent immediately after the baby is born Genetic Counseling: Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the diseasecausing IL2RG mutation has been identified in the family
Identifications Continued
If the mother is a carrier, the chance of transmitting the disease-causing mutation in each pregnancy is 50% Males who inherit the mutation will be affected Molecular Genetic Testing: IL2RG gene Lymphocyte functional tests: White blood cell count
Work Cited
Allenspach, Eric. "Summary." X-Linked Severe Combined Immunodeficiency. U.S. National Library of Medicine, 26 Aug. 2003. Web. 25 Feb. 2013. "Learning About Severe Combined Immunodeficiency (SCID)." Learning About Severe Combined Immunodeficiency (SCID). N.p., 3 Oct. 2011. Web. 27 Feb. 2013. Naynesh Kamani, M. "Severe Combined Immunodeficiency (SCID) and Transplant." Severe Combined Immunodeficiency. N.p., 2011. Web. 27 Feb. 2013. Severe combined immunodeficiency." Severe Combined Immunodeficiency. N.p., n.d. Web. 27 Feb. 2013. "Severe Combined Immunodeficiency (SCID)." Severe Combined Immunodeficiency (SCID). Children's Hospital of Wisconsin in Milwaukee, n.d. Web. 27 Feb. 2013. "X-linked Severe Combined Immunodeficiency." X-linked SCID. N.p., n.d. Web. 27 Feb. 2013.