![]() SCID involves defective antibody response due to either direct involvement with B lymphocytes or through improper B lymphocyte activation due to non-functional T-helper cells. Severe combined immunodeficiency ( SCID), also known as Swiss-type agammaglobulinemia, is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in differing clinical presentations. To learn more or make an appointment, please call (650) 502-7179.Medical condition Severe Combined Immune DeficiencyĪlymphocytosis, Glanzmann–Riniker syndrome, Severe mixed immunodeficiency syndrome, and Thymic alymphoplasia ĭavid Vetter, a child born in 1971 with severe combined immunodeficiency (SCID).īone marrow transplantation and prophylaxis against infection In a clinical trial, patients receive an antibody before their stem cell transplant to make space for the normal stem cells to grow, without the need for chemotherapy. We are also working to make stem cell transplantation safer for patients with SCID by eliminating the need for chemotherapy before transplant. Bertaina has performed more than 400 transplants using this approach. This means that every patient with SCID can now find a suitable stem cell donor. This technique has been shown to significantly reduce the risk of GVHD to the level seen in fully matched donors, while also reducing other posttransplant complications. Stanford’s Alice Bertaina, MD, PhD, is an internationally renowned expert in depleting T cells from a mismatched stem cell graft to reduce GVHD. We are working to make stem cell transplants safer and accessible to every patient with SCID. Why choose Stanford Medicine Children’s Health for SCID treatment? ![]() ![]() It usually takes four to six weeks after transplantation for your child to develop adequate immune function to protect them from infections so that they can be discharged from the hospital. If no family member is a suitable donor, a matched unrelated donor can be used. Stanford doctors can now deplete T cells that cause graft-versus-host disease from the stem cell graft before transplantation, reducing the risk of GVHD and enabling every patient to find a donor. In the past, using a mismatched donor could increase the chances of developing graft-versus-host disease (GVHD). If a healthy matched sibling donor is not available, then stem cell transplantation from a half-matched, or haploidentical, family donor, usually the mother, is the next-best option. The therapy of choice for most patients with SCID is stem cell transplantation from a healthy matched donor, usually a sibling. The only curative therapy for SCID is stem cell transplantation from a healthy individual or with the patient’s own genetically modified cells, also known as gene therapy. How is SCID treated at Stanford Medicine Children’s Health? Your child’s diagnosis will be confirmed by genetic testing and an assessment of your child’s T and B cell numbers and function. ![]() Patients with SCID are categorized by their primary genetic defect, but common to all forms of SCID is an absence of protective T and B cells (immune cells that help attack invaders like bacteria, viruses, and fungi). Now, your child may have been diagnosed based on a newborn screening before he or she developed any infections. In the past, patients were diagnosed based on their clinical presentation or family history. Symptoms include diarrhea, fungal infections, and poor physical growth. What are the symptoms of SCID, and how is it diagnosed? A variety of genetic defects can produce SCID. Patients with severe combined immunodeficiency (SCID) are born without a functioning immune system and therefore are at increased risk of infections and death before the age of 2. What is severe combined immunodeficiency (SCID)?
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