Immuno - Primary immunodeficiencies

Question 1

*Young girl with normal B cells, normal CD8+ but absence of CD4+

Answer 1

Bare lymphocyte syndrome type 2

Question 2

*Young boy with normal B cells and absence of CD8+ and CD4+

Answer 2

X-linked SCID (severe combined immunodeficiency)

Question 3

*Normal B and T cells, high IgM but absence of IgA, IgE and IgG

Answer 3

Hyper IgM Syndrome

Question 4

*Lady with spinal fracture due to tb (didn’t say tb but the fracture suggested it)

Answer 4

Defects in IL12-IFNgamma signalling pathway