Questions:

1)      Mutation of IL-2 receptor associated with very low or absent T-cell numbers

2)      Characterised by high neutrophil count in the absence of pus formation

3)      Associated with absent respiratory burst and granuloma formation 

4)      Severe congenital neutropenia

5)      Profound deficiency of CD4+ cells with a normal number of CD8+ cells

 

Options:

A)     Bare lymphocyte syndrome type II

B)      Cyclic neutropenia

C)      Bruton’s X-linked hypogammaglobulinaemia

D)     chromic granulomatous disease

E)      CD18 deficiency

F)      IL12 receptor deficiency               

G)     Selective IgA deficiency

H)     IFN gamma receptor deficiency

I)        DiGeorge syndrome

J)       X-Linked SCID

K)      Hyper IgM syndrome

L)       Kostmann syndrome

 

Answers:

1 – J

2 – E

3 – D

4 – L

5 – A