Severe Combined Immunodeficiency / Bubble Boy Disease

Severe Combined Immunodeficiency (SCID) is a rare and serious genetic disorder that affects the immune system. It is characterized by:

1. Absence or severe deficiency of T cells (CD4 and CD8)
2. Absence or severe deficiency of B cells
3. Impaired natural killer (NK) cell function

Symptoms:

1. Recurring severe infections (bacterial, viral, fungal)
2. Failure to thrive
3. Diarrhea
4. Skin rashes
5. Poor wound healing

Causes:

1. Genetic mutations (X-linked, autosomal recessive, or autosomal dominant)
2. Defects in genes involved in immune system development (e.g., IL2RG, ADA, RAG1, RAG2)

Treatment:

1. Bone marrow transplantation (BMT)
2. Gene therapy
3. Enzyme replacement therapy (for ADA-SCID)
4. Immunoglobulin replacement therapy

Prognosis:

1. Without treatment, SCID is usually fatal within the first year of life
2. With treatment, survival rates improve significantly, and some patients can lead normal lives

SCID is also known as "Bubble Boy Disease" due to the necessity of isolating affected individuals to prevent infections.

#Immunodeficiency