SCID- SEVERE COMBINED IMMUNODEFICIENCES

SCID- SEVERE COMBINED IMMUNODEFICIENCES - Cuddles Child Clinic

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

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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