Knowledge and timing are critical factors in treating a child with SCID. ADA deficiency can also affect hearing and brain development. So when ADA is missing, patients have low numbers of T, B and NK cells. The protein works by breaking down toxins in the body that would destroy the white blood cells. The ADA protein is needed by all cells in the body to produce new DNA. ADA SCIDĪdenosine deaminase (ADA) deficiency, sometimes called ADA SCID, is caused by a mutation in the gene that encodes the protein called adenosine deaminase. The RAG1 and RAG2 proteins are important in making T and B cells, so these patients are usually missing T and B cells. Because this is inherited in an autosomal recessive way, patients need 2 mutations to have SCID. RAG1 and RAG2 SCID are caused by autosomal recessive mutations in the RAG1/RAG2 genes. Females have two X chromosomes, so if a gene on one is mutated, the other healthy chromosome can compensate. X-linked SCID typically affects males, who only have one X chromosome. Instead of mobilizing lymphocytes to mature, replicate and spread to fight infection when it is detected, a mutated IL2RG gene will do nothing - leaving the body defenseless to infection. The mutation causes the gene to fail to respond to fight infection. ![]() ![]() X-linked SCID is caused by mutations in the IL2RG gene on the X chromosome. Adenosine deaminase (ADA) deficiency SCID (13 percent of all SCID patients). ![]()
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