I am trying to find some info on a disease called SKIDS. The female is the carrier and the disease only affects males. My aunt told me it runs in my family. Am eager to find info because my daughter is 4 months pregnant. I don't know is SKIDS is the name of the disease or the initials. Would very much appreciate any info. She also said if it was detected before birth they could do a bone marrow transplant other wise the boy child would die early in life, even with the transplant the child would be sick and need a shot of something everyday. Thank You.
There is a syndrome known as SCID, for Severe Combined Immunodeficiency Syndrome. Some may refer to it as the "baby in a bubble" disease because these children are at such great risk for infections.It is characterized by the absence of B and T cell function from birth, making affected children very sussceptible to infections. Unless the child receives a bone marrow transplant or enzyme replacement therapy, death usually ensues during the first or second year of life from overwhelming infection. In the first few months after birth, SCID infants have frequent episodes of diarrhea, pneumonia, otitis, sepsis, and skin infections. Bone marrow transplan corrects T-cell function within 90-120 days. There are several different types of SCID; Autosomal Recesive, X-linked, and Nezelof Syndrome. Genetic Counseling is needed to determine how great the risk for SCID actually is, and if testing would be necessary or helpful. Depending on how closly related your daughter is to the child(ren) who had SCID will help to determine if testing can be done. I recommend that your daughter discuss with her pediatrician or obsttrician about making an appointtment with a genetic counselor. The phone number for Genetics at Henry Ford Hospital in Detroit is 313-876-3188.
*KEYWORD: Immunodeficiency, SCID, Nezelof Syndrome, Genetic Testing
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