Severe Combined Immunodeficiency (SCID) is a rare primary immunodeficiency disorder characterized by severe immune system impairment.
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Gene Therapy: Gene therapy approaches are being developed to correct the genetic defect in certain types of SCID.Hematopoietic Stem Cell Transplantation (HSCT): HSCT, also known as bone marrow transplant, is the primary treatment option for SCID, replacing the defective immune system with healthy donor cells.Immunological Testing: Laboratory tests, including complete blood count (CBC), flow cytometry, and genetic testing, are performed to assess the immune cell populations and identify genetic mutations associated with SCID.Newborn Screening: SCID can be detected through newborn screening programs in some countries, allowing for early identification and prompt intervention.Opportunistic Infections: SCID leaves individuals vulnerable to opportunistic infections that would not typically affect individuals with a healthy immune system.Failure to Thrive: Infants with SCID may exhibit failure to thrive, poor weight gain, and overall growth delay.Recurrent Infections: Children with SCID experience severe and recurrent infections, often involving the respiratory tract, gastrointestinal system, and skin.Types of SCID: There are several types of SCID, including X-linked SCID, ADA-deficient SCID, and RAG deficiency SCID, each associated with different genetic mutations.
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However, with SIDS, the infant's response may not kick in due to the alerted brain receptor. "They arouse and they go through what's called auto-resuscitation, where it kick-starts breathing," she said. Robin Haynes, the study's lead author and a researcher at Boston Children's Hospital, said infants normally have a protective response that prompts them to gasp for air when they don't get enough oxygen during sleep. The results showed that the babies who had died of SIDS were more likely to have an altered version of the serotonin-related brain receptor than the control cases. They then compared those samples to the brain tissue of 12 infants who died of other causes, such as pneumonia or heart disease. The study looked at cases between 2004 to 2011 and examined brain tissue from 58 infants.