Combined immunodeficiency involves malfunctioning of multiple components of the immune system, including both humoral immunity and cell mediated immunity.
• It is also called as “bubble boy disease”
• It is X-linked genetic disorder
• It characteristically lead to death from overwhelming infection in the first year of life unless they have undergone successful bone marrow transplantation.
• In it neither T cells nor the B cells work properly
• It is also called as “bubble boy disease”
• It is X-linked genetic disorder
• It characteristically lead to death from overwhelming infection in the first year of life unless they have undergone successful bone marrow transplantation.
• In it neither T cells nor the B cells work properly
Types :
• Typical SCID
• Leaky SCID
• Variant SCID
Clinical presentation of SCID:
• Children with SCID may develop infections caused by organisms or vaccines
• Organisms which are most dangerous to cause fatal diseases are: pneumonia, fungal infection, viral infections like chickenpox, CMV, influenza, measles etc.
• Patients with SCID having rash are mistakenly diagnosed as eczema, but is actually caused by reaction of the mother’s T-cells.
Diagnosis:
• Low lymphocyte count <1500 per cubic millimeter
• Complement level in blood
• Culture method
• Perinatal amniocentesis and chorionic villous sampling
• Immunoglobulin levels
• Protein electrophoresis
• WBC count
• Bead microarray for detection of SCID
Treatment:
• Bone marrow transplant may be used to treat certain immunodeficiency conditions
• Passive immunity from certain bacteria and germs when exposed to
• Immunoglobulin replacement therapy
• Cord blood transplants may be an alternative
• Gene therapy
Prevention:
• Genetic counseling
• Way to avoid serious infections like HIV
• Good nutrition
• Perinatal diagnosis
Child named David Vetter in 1970 also named bubble boy who lived for 12 years in a plastic, germ free bubble. Early diagnoses and detection helps in treating children with SCID.
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