SEVERE COMBINED IMMUNODEFICIENCY (SCID)

Question 1

SCID is characterized by

Answer 1

Near complete absence of circulating T cells and impaired B-cell function

Question 2

What is the onset of SCID

Answer 2

4-6 months after passive immunity of the mother is over

Question 3

What is the main complication of SCID

Answer 3

Bubble baby

Question 4

IL-2 receptor deficiency

Answer 4

T-, B+, NK-
-Most frecuent
-X linked recessive
-Deficiencia de receptor IL-2 gamma

Question 5

IL-7 receptor alpha deficiency

Answer 5

**T-, B+, NK+
**
-Abnormal development of CD4 and CD8
-NK cells are preserved
-Early infancy

Question 6

RAG1/2 deficiency

Answer 6

T-, B-, NK+
Rag→ enzyme needed for recombination in antibodies
Ommen syndrome

Question 7

ADA deficiency (absolute lymphopenia)

Answer 7

T-, B-, NK-
Accumulation of toxic substance for B cells and T cells

Question 8

Clinical manifestations

Answer 8

-Extreme susceptibility and recurrent infections
-Candida, pneumocystis jiroveci, mycobacterium
-High mortality rate if untreated